Global Variome shared LOVD
SMN1 (survival of motor neuron 1, telomeric)
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Curator:
Johan den Dunnen
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This database is one of the gene variant databases from the
Leiden Muscular Dystrophy pages
The variants shown are described using the NM_000344.3 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
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Column type
Example
Matches
Text
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space
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|
Text
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!
Text
!fs
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^
Text
^p.(Arg
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$
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=""
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="p.0"
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!=""
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!=""
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!=""
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combination
Text
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Date
2020
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|
Date
2020-03|2020-04
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Date
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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Numeric
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>
Numeric
>23
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Numeric
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combination
Numeric
>=20 <30 !23
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Some more advanced examples:
Example
Matches
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Asian !Caucasian
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222 entries on 3 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
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
Fam2
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
Fam3
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
Fam4
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
Fam5
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
3/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
3
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
4/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
4
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
143/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
143
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
2/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
2
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
30/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
30
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
22/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
22
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
4/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
4
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
2/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
2
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
8/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
8
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
15/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
15
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
10/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
10
Johan den Dunnen
+/.
_1_9
c.-163_*577{0}
r.0
p.0
Both (homozygous)
ACMG
pathogenic
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
NM_000344.3: SMN1 0 copies
-
SMN1_000087
ACMG PVS1, PP4_mod
PubMed: Cerino 2022
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG
-
gene panel
MYOP
P70/Myo135
PubMed: Cerino 2022
analysis 82 myopathy patients
-
-
Chile
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_9
c.-163_*577{0}
r.0
p.0
Both (homozygous)
ACMG
pathogenic
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
NM_000344.3:SMN1 0 copies NM_017411.3:SMN2 3 copies
-
SMN1_000087
ACMG PVS1, PP4_mod
PubMed: Cerino 2022
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG
-
gene panel
MYOP
P71/Myo138
PubMed: Cerino 2022
analysis 82 myopathy patients
-
-
Chile
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
-
165 unrelated families Portugal
M
-
Portugal
-
-
-
-
-
165
Rosário dos Santos
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
-
165 unrelated families Portugal
M
-
Portugal
-
-
-
-
-
165
Rosário dos Santos
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Ogino 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Ogino 2004
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Ogino 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Ogino 2004
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Gambardella 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Gambardella 1998
del NAIP exon 5
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Paternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Parsons 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Parsons 1998
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Paternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Hahnen 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Hahnen 1997
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Paternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Hahnen 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Hahnen 1997
-
-
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Hahnen 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Hahnen 1997
-
-
-
Australia
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Lefebvre 1995
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Lefebvre 1995
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Parsons 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Parsons 1998
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Lorson 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Lorson 1999
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sossi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
SMA1
-
PubMed: Sossi 2001
-
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sossi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
SMA2
-
PubMed: Sossi 2001
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sossi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
SMA3
-
PubMed: Sossi 2001
-
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
3 patients (1 early onset)
-
-
Spain
-
-
-
-
-
3
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
8 patients (2 early onset)
-
-
Spain
-
-
-
-
-
8
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA4
-
PubMed: Bussaglia 1995
,
PubMed: Cusco 2003
2 patients
F
-
Spain
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sun 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Sun 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sun 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Sun 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sun 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Sun 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sun 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Sun 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Sun 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Sun 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Paternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Cusco 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Cusco 2004
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Cusco 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Cusco 2004
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
-
-
M
-
Portugal
-
-
-
-
-
1
Rosário dos Santos
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
-
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, RT-PCR
-
-
SMA
-
-
-
M
-
Portugal
-
-
-
-
-
1
Rosário dos Santos
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
-
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, RT-PCR
-
-
SMA
-
-
11 unrelated patients
-
-
Portugal
-
-
-
-
-
11
Rosário dos Santos
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Ogino 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Ogino 2004
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Ogino 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Ogino 2004
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Wirth 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Wirth 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Tsai 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Tsai 2001
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Martin 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Martin 2002
3 unrelated cases
-
-
-
-
-
-
-
-
3
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
Clermont 1997,
PubMed: Wirth 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
Clermont 1997,
PubMed: Wirth 2000
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Brahe 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Brahe 1996
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Wirth 1999
2 unrelated cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Parsons 1998
,
PubMed: Parsons 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Parsons 1998
,
PubMed: Parsons 1998
3 unrelated cases
-
-
-
-
-
-
-
-
3
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Wirth 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
Clermont 1997,
PubMed: Wirth 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
Clermont 1997,
PubMed: Wirth 2000
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Parsons 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Parsons 1998
2 unrelated patients
-
-
United States
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Wirth 1999
2 unrelated cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Tsai 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Tsai 2001
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Rochette 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Rochette 1997
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Martin 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Martin 2002
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
Clermont 1997,
PubMed: Martin 2002
,
PubMed: Parsons 1996
,
PubMed: Wirth 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
Clermont 1997,
PubMed: Martin 2002
,
PubMed: Parsons 1996
,
PubMed: Wirth 2000
7 unrelated cases
-
-
-
-
-
-
-
-
7
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: McAndrew 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: McAndrew 1997
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Skordis 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Skordis 2001
2 unrelated cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Rochette 1997
,
PubMed: Wirth 2000
,
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Rochette 1997
,
PubMed: Wirth 2000
,
PubMed: Wirth 1999
8 unrelated cases
-
-
-
-
-
-
-
-
8
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Hahnen 1997
,
PubMed: Parsons 1998
,
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Hahnen 1997
,
PubMed: Parsons 1998
,
PubMed: Wirth 1999
2 unrelated cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Skordis 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Skordis 2001
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Martin 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Martin 2002
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Lefebvre 1995
,
PubMed: Wirth 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Lefebvre 1995
,
PubMed: Wirth 2000
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wang 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA
-
PubMed: Wang 1998
2 unrelated cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Talbot 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Talbot 1997
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
-
PubMed: Wirth 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA1
-
PubMed: Wirth 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
2 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA3
-
PubMed: Bai 2014
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
2 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA1
-
PubMed: Bai 2014
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
3 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA2
-
PubMed: Bai 2014
-
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
2 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA1
-
PubMed: Bai 2014
-
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
3 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA2
-
PubMed: Bai 2014
-
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Paternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
2 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA1
-
PubMed: Bai 2014
-
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
3 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA2
-
PubMed: Bai 2014
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
3 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA2
-
PubMed: Bai 2014
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
1 copy SMN1
-
SMN1_000036
2 copies SMN2 gene
PubMed: Bai 2014
-
-
Germline
yes
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
SMA1
-
PubMed: Bai 2014
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
1 copy SMN2
PubMed: Yamamoto 2013
-
-
Germline
yes
-
-
-
-
DNA
PCRq
-
-
SMA3
-
PubMed: Yamamoto 2013
-
M
no
Japan
Japanese
-
-
-
-
1
Hisahide Nishio
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
3 copies SMN2
PubMed: Kotani 2007
,
PubMed: Yamamoto 2013
-
-
Unknown
-
-
-
-
-
DNA
PCRq
-
-
SMA1
-
PubMed: Kotani 2007
,
PubMed: Yamamoto 2013
-
F
-
Japan
-
-
-
-
-
1
Hisahide Nishio
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
3 copies SMN2
PubMed: Kotani 2007
,
PubMed: Yamamoto 2013
-
-
Unknown
-
-
-
-
-
DNA
PCRq
-
-
SMA1
-
PubMed: Kotani 2007
,
PubMed: Yamamoto 2013
-
M
-
Japan
-
-
-
-
-
1
Hisahide Nishio
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
SMN2 2 copies
PubMed: Yamamoto 2013
-
-
Unknown
-
-
-
-
-
DNA
PCRq
-
-
SMA1
-
PubMed: Yamamoto 2013
-
M
-
Japan
-
>19y
-
-
-
1
Hisahide Nishio
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
SMN2 1 copy
PubMed: Yamamoto 2013
-
-
Unknown
-
-
-
-
-
DNA
PCRq
-
-
SMA2
-
PubMed: Yamamoto 2013
-
F
-
Japan
-
>7y
-
-
-
1
Hisahide Nishio
+/+
_1_9_
c.(?_-163)_(*575_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_70220768)_(70248837_?)del
-
-
-
SMN1_000036
SMN2 1 copy
PubMed: Yamamoto 2013
-
-
Unknown
-
-
-
-
-
DNA
PCRq
-
-
SMA3
-
PubMed: Yamamoto 2013
-
F
-
Japan
-
>19y
-
-
-
1
Hisahide Nishio
+/.
1
c.-14C>T
r.(?)
p.(=)
Parent #1
-
pathogenic
g.70220917C>T
g.70925090C>T
-
-
SMN1_000038
-
PubMed: Parsons 1998
,
OMIM:var0006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Parsons 1998
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.-14C>T
r.(?)
p.(=)
Parent #1
-
pathogenic
g.70220917C>T
g.70925090C>T
-
-
SMN1_000038
-
PubMed: Parsons 1998
,
OMIM:var0006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Parsons 1998
2 unrelated patients
-
-
United States
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.-7_9del
r.-7_9del
p.0
Maternal (confirmed)
-
pathogenic
g.70220924_70220939del
g.70925097_70925112del
-
-
SMN1_000059
-
-
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
SMA3
-
-
-
F
no
(China)
chinese
-
-
-
-
1
Fang Song
+/.
7i_9_
c.(834+1_835-1)_*577{0}
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(70242004_70247767)_(70248839_?)del
g.(70946177_70951940)_(70953012_?)del
del ex7-8
-
SMN1_000092
-
PubMed: Bai 2022
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ, SEQ-ON, SEQ-PB
-
-
SMA
Fam1PatIV2
PubMed: Bai 2022
4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant
F;M
no
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
7/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
7
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
19/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
19
Johan den Dunnen
+/.
_1_9_
c.-163_*577{0}
r.0
p.0
Both (homozygous)
-
pathogenic (recessive)
g.(?_70220768)_(70248839_?)del
g.(?_70924941)_(70953012_?)del
del SMN1
-
SMN1_000087
-
PubMed: Sharifi 2021
-
-
Germline
-
5/432 families SMA
-
-
-
DNA
MLPA, SEQ
-
-
SMA
-
PubMed: Sharifi 2021
analysis 432 SMA families
-
-
Iran
-
-
-
-
-
5
Johan den Dunnen
+/.
-
c.?
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
del ex7
-
RAD50_000000
-
PubMed: Reiner 2022
-
-
Germline
-
2/73,755 controls
-
-
-
DNA
SEQ, SEQ-NG
-
custom gene panel
Healthy/Control
-
PubMed: Reiner 2022
carrier screening 73,755 controls
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
del ex7
-
RAD50_000000
-
PubMed: Reiner 2022
-
-
Germline
-
2/73,755 controls
-
-
-
DNA
SEQ, SEQ-NG
-
custom gene panel
Healthy/Control
-
PubMed: Reiner 2022
carrier screening 73,755 controls
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.5C>G
r.(?)
p.(Ala2Gly)
Parent #1
-
pathogenic
g.70220935C>G
g.70925108C>G
38C>G
-
SMN1_000001
-
PubMed: Parsons 1998
,
OMIM:var0006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA2
-
PubMed: Parsons 1998
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.5C>G
r.(?)
p.(Ala2Gly)
Parent #1
-
pathogenic
g.70220935C>G
g.70925108C>G
38C>G
-
SMN1_000001
founder mutation likely
PubMed: Parsons 1998
,
OMIM:var0006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SMA3
-
PubMed: Parsons 1998
2 unrelated patients
-
-
United States
-
-
-
-
-
2
Johan den Dunnen
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