Global Variome shared LOVD
SLC6A8 (solute carrier family 6 (neurotransmitter ...))
LOVD v.3.0 Build 29 [
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Curators:
Gajja Salomons
and
Eric Wever
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The variants shown are described using the NM_005629.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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431 entries on 5 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
./.
-
c.-243224_*649237dup
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.152710806_153609906dup
-
MECP2
-
MECP2_002820
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamAU29
PubMed: Hu 2016
family, 2 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
-
-
-
2
Johan den Dunnen
?/.
1i
c.-5A>G
r.(=)
p.(=)
Parent #1
-
VUS
g.152954025A>G
g.153688570A>G
-
-
SLC6A8_003188
also found in wild type
-
-
rs384573
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/.
-
c.-5A>G
r.(?)
p.(=)
Unknown
-
benign
g.152954025A>G
g.153688570A>G
SLC6A8(NM_005629.4):c.-5A>G
-
SLC6A8_003188
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-5A>G
r.(?)
p.(=)
Unknown
-
benign
g.152954025A>G
g.153688570A>G
SLC6A8(NM_005629.4):c.-5A>G
-
SLC6A8_003188
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-5A>G
r.(?)
p.(=)
Unknown
-
benign
g.152954025A>G
g.153688570A>G
SLC6A8(NM_005629.4):c.-5A>G
-
SLC6A8_003188
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
_1_13_
c.-1_*1del
r.(?)
p.0?
Unknown
-
pathogenic (recessive)
g.152954029_152960670del
g.153688574_153695215del
-
-
SLC6A8_003139
-
PubMed: Anselm 2006
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
CCDS1;CDSX
-
PubMed: Anselm 2006
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+/.
-
c.*1131_*1379{0}
r.(?)
p.(=)
Maternal (confirmed)
-
pathogenic (recessive)
g.152961800_152967144del
g.153696345_153701689del
del ex8
-
BCAP31_000041
SLC6A8 transcript level 0.46
PubMed: Cacciagli 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Fam2PatIII5
PubMed: Cacciagli 2013
4-generation family, 4 affected (4M), 3 unaffected carrier females
M
-
France
-
7m
-
-
-
4
Johan den Dunnen
+/.
4i_13_
c.778-36_*1379{0}
r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.152958460_152977354del
g.153693005_153711899del
-
-
BCAP31_000042
-
PubMed: Osaka 2012
-
-
De novo
-
-
-
-
-
DNA
PCR, PCRlr, RT-PCR, SEQ
-
-
?
patient
PubMed: Osaka 2012
2-generation family, 1 affected, unaffected non-carrier parents
M
no
Japan
-
-
-
-
-
1
Johan den Dunnen
-/-
1
c.11A>G
r.(?)
p.(Lys4Arg)
Unknown
-
benign
g.152954040A>G
g.153688585A>G
-
-
SLC6A8_003003
proven non-pathogenic variant; 1/1900 MR patients
PubMed: Clark 2006
,
PubMed: Rosenberg 2007
-
-
Germline
-
0/628 controls
SacI
-
-
DNA
SEQ
-
-
ID
-
PubMed: Clark 2006
,
PubMed: Rosenberg 2007
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-/-
1
c.11A>G
r.(?)
p.Lys4Arg
Unknown
-
NA
g.152954040A>G
g.153688585A>G
-
-
SLC6A8_003003
overexpression in SLC6A8 deficient fibroblasts restored creatine uptake
PubMed: Rosenberg 2007
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
1
c.76G>A
r.(?)
p.(Gly26Arg)
Unknown
-
benign
g.152954105G>A
g.153688650G>A
-
-
SLC6A8_003005
proven non-pathogenic variant; 1/1900 MR patients
PubMed: Clark 2006
,
PubMed: Rosenberg 2007
-
-
Germline
-
0/655 controls
AvaI
-
-
DNA
SEQ
-
-
ID
-
PubMed: Clark 2006
,
PubMed: Rosenberg 2007
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-/-
1
c.76G>A
r.(?)
p.Gly26Arg
Unknown
-
NA
g.152954105G>A
g.153688650G>A
-
-
SLC6A8_003005
overexpression in SLC6A8 deficient fibroblasts restored creatine uptake
PubMed: Rosenberg 2007
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.87G>A
r.(?)
p.(Gly29=)
Unknown
-
likely benign
g.152954116G>A
g.153688661G>A
SLC6A8(NM_005629.3):c.87G>A (p.G29=), SLC6A8(NM_005629.4):c.87G>A (p.G29=)
-
SLC6A8_003231
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.87G>A
r.(?)
p.(Gly29=)
Unknown
-
likely benign
g.152954116G>A
g.153688661G>A
SLC6A8(NM_005629.3):c.87G>A (p.G29=), SLC6A8(NM_005629.4):c.87G>A (p.G29=)
-
SLC6A8_003231
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.89C>T
r.(?)
p.(Ala30Val)
Unknown
-
likely benign
g.152954118C>T
-
SLC6A8(NM_005629.3):c.89C>T (p.A30V)
-
SLC6A8_003247
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.92C>T
r.(?)
p.(Pro31Leu)
Unknown
-
likely benign
g.152954121C>T
-
SLC6A8(NM_005629.3):c.92C>T (p.P31L)
-
SLC6A8_003250
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.92C>T
r.(?)
p.(Pro31Leu)
Unknown
-
VUS
g.152954121C>T
-
SLC6A8(NM_005629.3):c.92C>T (p.P31L)
-
SLC6A8_003250
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.219del
r.(?)
p.(Asn74Thrfs*23)
Maternal (confirmed)
-
pathogenic (recessive)
g.152954248del
g.153688793del
219delC
-
SLC6A8_003008
-
PubMed: Dezortova 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Dezortova 2008
-
M
-
Czech Republic
-
-
-
-
-
1
Gajja Salomons
+/+
1
c.219del
r.(?)
p.(Asn74Thrfs*23)
Maternal (confirmed)
-
pathogenic (recessive)
g.152954248del
g.153688793del
219delC
-
SLC6A8_003008
-
PubMed: Dezortova 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Dezortova 2008
-
F
-
Czech Republic
-
-
-
-
-
1
Gajja Salomons
+/+
1
c.259G>A
r.(?)
p.(Gly87Arg)
Unknown
-
pathogenic (recessive)
g.152954288G>A
g.153688833G>A
-
-
SLC6A8_003009
proven pathogenic variant
PubMed: Rosenberg 2004
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Rosenberg 2004
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
+/+
1
c.259G>A
r.(?)
p.Gly87Arg
Unknown
-
NA
g.152954288G>A
g.153688833G>A
-
-
SLC6A8_003009
overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake
PubMed: Rosenberg 2007
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1i
c.262_262+1delinsTT
r.spl
p.?
Unknown
-
pathogenic (recessive)
g.152954291_152954292delinsTT
g.153688836_153688837delinsTT
-
-
SLC6A8_003010
This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. 5 out of 5 splice predictors predict the complete loss of the splice site.
Journal: Wilcken 2008
,
PubMed: Betsalel 2010
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
Journal: Wilcken 2008
-
M
-
Australia
-
-
-
-
-
1
Gajja Salomons
+/?
1i
c.262+1G>T
r.spl
p.?
Unknown
-
pathogenic (recessive)
g.152954292G>T
g.153688837G>T
-
-
SLC6A8_003169
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
-
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Gajja Salomons
-/.
1i
c.262+26T>C
r.(=)
p.(=)
Parent #1
-
benign
g.152954317T>C
g.153688862T>C
-
-
SLC6A8_003011
-
-
-
rs192387453
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/-
1i
c.262+26T>C
r.(?)
p.(=)
Unknown
-
benign
g.152954317T>C
g.153688862T>C
IVS1+26T>C
-
SLC6A8_003011
Detected in control(s). No effect predicted by 5 splice predictors
PubMed: Rosenberg 2004
,
PubMed: Betsalel 2010
-
-
Germline
-
6/280 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Rosenberg 2004
,
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
37
Gajja Salomons
-?/-?
1i
c.262+53G>C
r.(?)
p.(=)
Unknown
-
likely benign
g.152954344G>C
g.153688889G>C
-
-
SLC6A8_003012
No effect predicted by 5 splice predictors, 3/1900 MR patients
PubMed: Clark 2006
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Clark 2006
-
M
-
-
-
-
-
-
-
3
Gajja Salomons
-/-
1i
c.262+65G>A
r.(?)
p.(=)
Unknown
-
benign
g.152954356G>A
g.153688901G>A
-
-
SLC6A8_003013
Normal urine in one male MR patient. No effect predicted by 5 splice predictors, 2/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
3
Gajja Salomons
?/.
1i
c.263-95G>A
r.(=)
p.(=)
Parent #1
-
VUS
g.152955735G>A
g.153690280G>A
-
-
SLC6A8_003174
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-?/-?
1i
c.263-95G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.152955735G>A
g.153690280G>A
-
-
SLC6A8_003174
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ID
-
-
-
F
-
Netherlands
-
-
-
-
-
1
Gajja Salomons
+/+
1i
c.263-2A>G
r.263_325del
p.Gly88_Leu108del
Maternal (confirmed)
-
pathogenic (recessive)
g.152955828A>G
g.153690373A>G
r.263_328del
-
SLC6A8_003015
cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site.
PubMed: Schiaffino 2005
,
PubMed: Betsalel 2010
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Schiaffino 2005
-
M
-
Italy
-
-
-
-
-
1
Gajja Salomons
+/+
1i
c.263-2A>G
r.263_325del
p.Gly88_Leu108del
Unknown
-
pathogenic (recessive)
g.152955828A>G
g.153690373A>G
r.263_328del
-
SLC6A8_003015
cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site.
PubMed: Schiaffino 2005
,
PubMed: Betsalel 2010
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Schiaffino 2005
-
F
-
Italy
-
-
-
-
-
1
Gajja Salomons
+/+
1i
c.263-1G>C
r.263_325del
p.Gly88_Leu108del
Unknown
-
pathogenic (recessive)
g.152955829G>C
g.153690374G>C
-
-
SLC6A8_003014
This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site.
PubMed: Betsalel 2010
-
-
De novo
-
-
-
-
-
DNA, RNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Betsalel 2010
-
F
-
France
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.291_292insAGGG
r.(?)
p.(Ala98Argfs*92)
Unknown
-
pathogenic (recessive)
g.152955858_152955859insAGGG
g.153690403_153690404insAGGG
-
-
SLC6A8_003016
-
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
F
-
France
-
-
-
-
-
1
Gajja Salomons
-?/-?
2
c.306A>G
r.(?)
p.(=)
Unknown
-
likely benign
g.152955873A>G
g.153690418A>G
-
-
SLC6A8_003017
No effect predicted by 5 splice predictors. , 1/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-?/.
-
c.306A>G
r.(?)
p.(Gly102=)
Unknown
-
likely benign
g.152955873A>G
-
SLC6A8(NM_005629.3):c.306A>G (p.G102=)
-
SLC6A8_003017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
-
M
-
United States
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
-
M
-
United States
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Unknown
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
-
F
-
United States
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
-
F
-
United States
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Rosenberg 2004
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Rosenberg 2004
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Unknown
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
M
-
Austria
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Rosenberg 2004
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Unknown
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Unknown
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
M
-
Austria
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.(Phe107del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
proven pathogenic variant
PubMed: degrauw 2002
,
PubMed: Rosenberg 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: degrauw 2002
-
F
-
-
-
-
-
-
-
1
Gajja Salomons
+/+
2
c.321_323del
r.(?)
p.Phe107del
Maternal (confirmed)
-
NA
g.152955888_152955890del
g.153690433_153690435del
319_321delCTT
-
SLC6A8_003018
overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake
PubMed: Rosenberg 2007
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.321_323del
r.(?)
p.(Phe107del)
Unknown
-
pathogenic
g.152955888_152955890del
g.153690433_153690435del
316_318del
-
SLC6A8_003018
-
PubMed: Zhu 2015
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
trio WES
?
Trio52
PubMed: Zhu 2015
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.366T>C
r.(?)
p.(Asn122=)
Unknown
-
likely benign
g.152955933T>C
-
SLC6A8(NM_005629.3):c.366T>C (p.N122=)
-
SLC6A8_003251
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+?
2
c.370T>C
r.(?)
p.(Trp124Arg)
Maternal (confirmed)
-
VUS
g.152955937T>C
g.153690482T>C
-
-
SLC6A8_003019
variant not detected in grandmother
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
?/+?
2
c.370T>C
r.(?)
p.(Trp124Arg)
Unknown
-
VUS
g.152955937T>C
g.153690482T>C
-
-
SLC6A8_003019
variant not detected in mother, most likely de novo in this heterozygote
PubMed: van de Kamp 2013
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
F
-
France
-
-
-
-
-
1
Gajja Salomons
?/+?
2
c.370T>C
r.(?)
p.(Trp124Arg)
Maternal (confirmed)
-
VUS
g.152955937T>C
g.153690482T>C
-
-
SLC6A8_003019
-
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
F
-
France
-
-
-
-
-
1
Gajja Salomons
-?/-?
2i
c.394+52C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.152956013C>T
g.153690558C>T
-
-
SLC6A8_003020
No effect predicted by 5 splice predictors, 2/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
2
Gajja Salomons
-?/-?
2i
c.394+66C>A
r.(?)
p.(=)
Unknown
-
likely benign
g.152956027C>A
g.153690572C>A
-
-
SLC6A8_003021
No effect predicted by 5 splice predictors, 1/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-?/-?
2i
c.394+72C>A
r.(?)
p.(=)
Unknown
-
likely benign
g.152956033C>A
g.153690578C>A
-
-
SLC6A8_003022
No effect predicted by 5 splice predictors, 4/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
4
Gajja Salomons
?/.
2i
c.394+88G>A
r.(=)
p.(=)
Parent #1
-
VUS
g.152956049G>A
g.153690594G>A
-
-
SLC6A8_003024
-
-
-
rs6643763
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
?/.
2i
c.394+88G>A
r.(=)
p.(=)
Parent #1
-
VUS
g.152956049G>A
g.153690594G>A
-
-
SLC6A8_003024
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/-
2i
c.394+88G>A
r.(?)
p.(=)
Unknown
-
benign
g.152956049G>A
g.153690594G>A
-
-
SLC6A8_003024
Detected in control(s). No effect predicted by 5 splice predictors, 1/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
1/281 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
35
Gajja Salomons
-/-
2i
c.394+88G>C
r.(?)
p.(=)
Unknown
-
benign
g.152956049G>C
g.153690594G>C
IVS2+88G>C
-
SLC6A8_003023
detected in control(s); no effect predicted by 5 splice predictors
PubMed: Rosenberg 2004
,
PubMed: Betsalel 2010
-
-
Germline
-
7/276 controls
rs6643763
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Rosenberg 2004
,
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+?/+?
3
c.395G>T
r.(?)
p.(Gly132Val)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.152956759G>T
g.153691304G>T
-
-
SLC6A8_003025
-
PubMed: Lion-Francois 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Lion-Francois 2006
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
+?/+?
3
c.395G>T
r.(?)
p.(Gly132Val)
Unknown
-
likely pathogenic (recessive)
g.152956759G>T
g.153691304G>T
-
-
SLC6A8_003025
-
PubMed: Lion-Francois 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Lion-Francois 2006
-
F
-
France
-
-
-
-
-
1
Gajja Salomons
+?/+?
3
c.395G>T
r.(?)
p.(Gly132Val)
Unknown
-
likely pathogenic (recessive)
g.152956759G>T
g.153691304G>T
-
-
SLC6A8_003025
-
PubMed: Lion-Francois 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Lion-Francois 2006
-
F
-
France
-
-
-
-
-
1
Gajja Salomons
+?/+?
3
c.395G>T
r.(?)
p.(Gly132Val)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.152956759G>T
g.153691304G>T
-
-
SLC6A8_003025
-
PubMed: Lion-Francois 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Lion-Francois 2006
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
?/.
-
c.420C>T
r.(?)
p.(Ile140=)
Unknown
-
VUS
g.152956784C>T
-
SLC6A8(NM_005629.3):c.420C>T (p.I140=)
-
SLC6A8_003248
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
3
c.428_430del
r.(?)
p.(Tyr143del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152956792_152956794del
g.153691337_153691339del
428_430delACT
-
SLC6A8_003135
DNA statuts not known
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
M
-
Netherlands
-
-
-
-
-
1
Gajja Salomons
+/+
3
c.428_430del
r.(?)
p.(Tyr143del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152956792_152956794del
g.153691337_153691339del
428_430delACT
-
SLC6A8_003135
-
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
M
-
Netherlands
-
-
-
-
-
1
Gajja Salomons
+/+
3
c.428_430del
r.(?)
p.(Tyr143del)
Unknown
-
pathogenic (recessive)
g.152956792_152956794del
g.153691337_153691339del
428_430delACT
-
SLC6A8_003135
-
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
F
-
Netherlands
-
-
-
-
-
1
Gajja Salomons
+/+
3
c.462G>A
r.(?)
p.(Trp154*)
Unknown
-
pathogenic (recessive)
g.152956826G>A
g.153691371G>A
-
-
SLC6A8_003026
-
PubMed: Fons 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Fons 2009
-
M
-
Spain
-
-
-
-
-
1
Gajja Salomons
+/+
3
c.467_469del
r.(?)
p.(Phe156del)
Maternal (confirmed)
-
pathogenic (recessive)
g.152956831_152956833del
g.153691376_153691378del
467_469delTCT
-
SLC6A8_003140
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
-
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+/+
3
c.467_469del
r.(?)
p.(Phe156del)
Unknown
-
pathogenic (recessive)
g.152956831_152956833del
g.153691376_153691378del
467_469delTCT
-
SLC6A8_003140
-
-
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
-
-
F
-
-
-
-
-
-
-
1
Gajja Salomons
-?/-?
3
c.495C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.152956859C>T
g.153691404C>T
-
-
SLC6A8_003027
Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 1/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
-?/.
-
c.510C>T
r.(?)
p.(Ala170=)
Unknown
-
likely benign
g.152956874C>T
g.153691419C>T
SLC6A8(NM_005629.3):c.510C>T (p.A170=)
-
SLC6A8_003236
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.537C>T
r.(?)
p.(Pro179=)
Unknown
-
likely benign
g.152956901C>T
-
SLC6A8(NM_005629.3):c.537C>T (p.P179=)
-
SLC6A8_003252
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.541T>C
r.(?)
p.(Cys181Arg)
Parent #1
-
pathogenic
g.152956905T>C
g.153691450T>C
-
-
SLC6A8_003028
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
?/+?
3
c.541T>C
r.(?)
p.(Cys181Arg)
Unknown
-
VUS
g.152956905T>C
g.153691450T>C
-
-
SLC6A8_003028
variant detected de novo in at least one patient with SLC6A8 deficiency.
PubMed: van de Kamp 2013
-
-
De novo
-
myoblasts and muscle biopsy present
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
M
-
France
-
-
-
-
-
1
Gajja Salomons
-?/.
-
c.544G>A
r.(?)
p.(Val182Met)
Unknown
-
likely benign
g.152956908G>A
g.153691453G>A
SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M)
-
SLC6A8_003029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
3
c.544G>A
r.(?)
p.(Val182Met)
Unknown
-
benign
g.152956908G>A
g.153691453G>A
-
-
SLC6A8_003029
Detected in control(s). No effect predicted by 5 splice predictors. In one male MR with this variant a normal urinary cr/crn was detected , 0/1900 MR patients
PubMed: Clark 2006
-
-
Germline
-
1/635 controls
Hpy;Ch4V
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Clark 2006
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-?/.
-
c.544G>A
r.(?)
p.(Val182Met)
Unknown
-
likely benign
g.152956908G>A
g.153691453G>A
SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M)
-
SLC6A8_003029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
3
c.570_571del
r.(?)
p.(Ala191Glnfs*10)
Unknown
-
pathogenic (recessive)
g.152956934_152956935del
g.153691479_153691480del
568_569delTG
-
SLC6A8_003030
-
Journal: De Kort 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
Journal: De Kort 2006
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+/+
3
c.570_571del
r.(?)
p.(Ala191Glnfs*10)
Unknown
-
pathogenic (recessive)
g.152956934_152956935del
g.153691479_153691480del
568_569delTG
-
SLC6A8_003030
-
Journal: De Kort 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
Journal: De Kort 2006
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
+/.
-
c.570_571del
r.(?)
p.(Ala191GlnfsTer10)
Unknown
-
pathogenic
g.152956934_152956935del
-
SLC6A8(NM_005629.4):c.570_571delTG (p.A191Qfs*10)
-
SLC6A8_003030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/-?
3
c.603C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.152956967C>T
g.153691512C>T
-
-
SLC6A8_003031
No effect predicted by 5 splice predictors, 1/1900 MR patients
PubMed: Clark 2006
,
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Clark 2006
,
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-?/.
-
c.617G>A
r.(?)
p.(Arg206His)
Unknown
-
likely benign
g.152956981G>A
g.153691526G>A
SLC6A8(NM_005629.3):c.617G>A (p.R206H)
-
SLC6A8_003237
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
3
c.619C>T
r.(?)
p.(Arg207Trp)
Maternal (confirmed)
-
pathogenic (recessive)
g.152956983C>T
g.153691528C>T
-
-
SLC6A8_003182
overexpression
PubMed: Ardon 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Ardon 2016
-
M
-
Israel
-
-
-
-
-
1
Vered Raz
./.
-
c.644+2_644+3del
r.spl?
p.?
Maternal (confirmed)
-
pathogenic
g.152957010_152957011del
g.153691555_153691556del
SLC6A8 splice donor
-
SLC6A8_003227
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamD96
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.644+9G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.152957017G>A
g.153691562G>A
SLC6A8(NM_005629.4):c.644+9G>A
-
SLC6A8_003032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/-?
3i
c.644+9G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.152957017G>A
g.153691562G>A
-
-
SLC6A8_003032
Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 2/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
F
-
-
-
-
-
-
-
2
Gajja Salomons
+/.
-
c.645-1G>A
r.spl?
p.?
Unknown
-
pathogenic
g.152957429G>A
g.153691974G>A
-
-
SLC6A8_003220
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
4
c.676G>T
r.(?)
p.(Glu226*)
Unknown
-
pathogenic (recessive)
g.152957461G>T
g.153692006G>T
-
-
SLC6A8_003033
variant detected de novo in at least one patient with SLC6A8 deficiency.
PubMed: van de Kamp 2013
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
M
-
Belgium
-
-
-
-
-
1
Gajja Salomons
?/+?
4
c.729G>T
r.(?)
p.(Trp243Cys)
Unknown
-
VUS
g.152957514G>T
g.153692059G>T
-
-
SLC6A8_003034
-
PubMed: van de Kamp 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: van de Kamp 2013
-
F
-
United States
-
-
-
-
-
1
Gajja Salomons
-/.
-
c.777+4C>T
r.spl?
p.?
Unknown
-
benign
g.152957566C>T
g.153692111C>T
SLC6A8(NM_005629.3):c.777+4C>T, SLC6A8(NM_005629.4):c.777+4C>T
-
SLC6A8_003035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/-?
4i
c.777+4C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.152957566C>T
g.153692111C>T
-
-
SLC6A8_003035
Mild effect (<10% reduced change) predicted by 4 out of 5 splice predictors. However, no splice errors detected by overexpression of minigene., 1/1900 MR patients
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
-?/.
-
c.777+4C>T
r.spl?
p.?
Unknown
-
likely benign
g.152957566C>T
-
SLC6A8(NM_005629.3):c.777+4C>T, SLC6A8(NM_005629.4):c.777+4C>T
-
SLC6A8_003035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.778-121T>C
r.(=)
p.(=)
Unknown
-
benign
g.152958375T>C
g.153692920T>C
SLC6A8(NM_005629.4):c.778-121T>C
-
SLC6A8_003199
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.778-8C>G
r.(=)
p.(=)
Unknown
-
VUS
g.152958488C>G
g.153693033C>G
SLC6A8(NM_001142805.1):c.778-8C>G (p.(=))
-
SLC6A8_003200
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
4i
c.778-2A>G
r.spl
p.?
Unknown
-
pathogenic (recessive)
g.152958494A>G
g.153693039A>G
-
-
SLC6A8_003036
4 out of 4 splice predictors predict the complete loss of the splice site.
PubMed: Betsalel 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Betsalel 2010
-
F
-
Germany
-
-
-
-
-
1
Gajja Salomons
+/+
4i
c.778-2A>G
r.spl
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.152958494A>G
g.153693039A>G
-
-
SLC6A8_003036
4 out of 4 splice predictors predict the complete loss of the splice site.
PubMed: Betsalel 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Betsalel 2010
-
M
-
Germany
-
-
-
-
-
1
Gajja Salomons
+/+
4i
c.778-2A>G
r.spl
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.152958494A>G
g.153693039A>G
-
-
SLC6A8_003036
4 out of 4 splice predictors predict the complete loss of the splice site.
PubMed: Betsalel 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCDS1;CDSX
-
PubMed: Betsalel 2010
-
M
-
Germany
-
-
-
-
-
1
Gajja Salomons
-?/-?
5
c.780C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.152958498C>T
g.153693043C>T
-
-
SLC6A8_003039
Effect (4% [1,00 > 0,96; range 0 - 1,00], 32% [0,22 > 0,15; range 0 - 1,00], 20% [3,3 > 2,67; range 0 - 13,00] reduced change) predicted by 3 out of 5 splice predictors. 1/1900 MR patients
PubMed: Clark 2006
,
PubMed: Betsalel 2010
-
-
Germline
-
0/280 controls
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Clark 2006
,
PubMed: Betsalel 2010
-
M
-
-
-
-
-
-
-
1
Gajja Salomons
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