Global Variome shared LOVD
PRNP (prion protein)
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The variants shown are described using the NM_000311.3 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
Haplotype
: haplotype on which variant was found
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-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
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
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"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
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
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|
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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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Haplotype
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
-/?
1i
c.-10-21G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.4679836G>A
g.4699190G>A
-
-
PRNP_000012
-
{PMID08829666:Palmer 1996}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
?
-
-
-
?
?
? (unknown)
-
-
-
-
-
1
Johan den Dunnen
-/?
1i
c.-10-21G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.4679836G>A
g.4699190G>A
-
-
PRNP_000012
-
{PMID08829666:Palmer 1996}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
?
-
-
-
?
?
? (unknown)
-
-
-
-
-
1
Johan den Dunnen
-/?
1i
c.-10-21G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.4679836G>A
g.4699190G>A
-
-
PRNP_000012
-
{PMID08829666:Palmer 1996}
-
-
Germline
-
7/124 chromosomes
-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
-
?
?
? (unknown)
-
-
-
-
-
7
Johan den Dunnen
-/.
-
c.-10-21G>A
r.(=)
p.(=)
-
Unknown
-
benign
g.4679836G>A
g.4699190G>A
PRNP(NM_000311.4):c.-10-21G>A
-
PRNP_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.159C>T
r.(?)
p.(Gly53=)
-
Unknown
-
likely benign
g.4680025C>T
g.4699379C>T
PRNP(NM_000311.4):c.159C>T (p.G53=)
-
PRNP_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.160G>A
r.(?)
p.(Gly54Ser)
-
Parent #1
-
pathogenic
g.4680026G>A
g.4699380G>A
-
-
PRNP_000040
-
PubMed: Owen 2014
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
?
-
PubMed: Beck 2010
-
-
-
-
-
-
0
-
-
1
J Beck
-?/.
2
c.160G>A
r.(?)
p.(Gly54Ser)
-
Unknown
-
likely benign
g.4680026G>A
g.4699380G>A
-
-
PRNP_000040
-
PubMed: Beck 2010
-
-
Unknown
-
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Beck 2010
-
F
no
Uganda
Gujarati
48y
0
-
-
1
Johan den Dunnen
-?/.
2
c.160G>A
r.(?)
p.(Gly54Ser)
-
Unknown
-
likely benign
g.4680026G>A
g.4699380G>A
-
-
PRNP_000040
variant also found in CEPH control panel (2 Pakistani liguistic groups, low levels China and Middle East)
PubMed: Beck 2010
-
-
Unknown
?
5 groups
-
0
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Beck 2010
-
?
?
Uganda
Gujarati
-
0
-
-
1
Johan den Dunnen
?/.
-
c.160G>A
r.(?)
p.(Gly54Ser)
-
Unknown
-
VUS
g.4680026G>A
-
PRNP(NM_000311.4):c.160G>A (p.G54S)
-
PRNP_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/?
2
c.(178_201)[3]
r.(?)
p.(Pro60_Gln67)[3]
-
Parent #1
-
likely benign
g.4680044_4680067del
-
-
-
PRNP_000000
Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message.
{PMID07783865:Reder 1995}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
FFI
-
-
-
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
+?/.
2
c.201_202ins(168)
r.(?)
p.(Pro60_Gln67)[11]
12
Unknown
-
likely pathogenic
g.4680067_4680068ins168
-
7-OPRI
-
PRNP_000000
12 haplotype (undetermined)
PubMed: Owen 2014
-
-
Germline
-
-
-
0
-
DNA
DSDI, SEQ
-
-
?
-
-
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+?/.
2
c.201_202ins(216)
r.(?)
p.(Pro60_Gln67)[13]
14
Unknown
-
likely pathogenic
g.4680067_4680068ins216
-
9-OPRI
-
PRNP_000000
14 haplotype (undetermined)
PubMed: Owen 2014
-
-
Germline
-
-
-
0
-
DNA
DSDI, SEQ
-
-
?
-
-
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+?/.
2
c.203_204ins204_227{222G>A}ins180_251{246A>G}ins204_227
r.(?)
p.(Pro60_Gln67)[9]
10
Unknown
-
likely pathogenic
g.4680067_4680068ins120
-
-
-
PRNP_000051
10 haplotype 1-2-2a-2-2-3g-2-2-3-4
PubMed: Beck 2007
-
-
Unknown
?
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Beck 2007
-
F
no
Japan
-
>49y
0
-
-
1
Johan den Dunnen
+?/.
2
c.203_204ins228_251ins204_251ins204_251{246A>G}
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
likely pathogenic
g.4680067_4680068ins120
-
5-OPRI
-
PRNP_000048
10 haplotype 1-2-3-2-3-2-3g-2-3-4 (South African)
PubMed: Owen 2014
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
?
-
PubMed: Mead 2007
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+?/.
2
c.203_204ins228_251ins204_251ins204_251{246A>G}
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
likely pathogenic
g.4680067_4680068ins120
-
5-OPRI
-
PRNP_000049
10 haplotype 1-2-3-2-3-2-3g-2-3-4
PubMed: Mead 2007
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Mead 2007
4-generation famlily, 4 affecteds (F, 3M)
-
no
South Africa
-
53y
0
-
-
1
Johan den Dunnen
-?/.
-
c.204T>C
r.(?)
p.(Pro68=)
-
Unknown
-
likely benign
g.4680070T>C
g.4699424T>C
PRNP(NM_000311.4):c.204T>C (p.P68=), PRNP(NM_001271561.2):c.115T>C (p.S39P)
-
PRNP_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.204T>C
r.(?)
p.(Pro68=)
-
Unknown
-
likely benign
g.4680070T>C
g.4699424T>C
PRNP(NM_000311.4):c.204T>C (p.P68=), PRNP(NM_001271561.2):c.115T>C (p.S39P)
-
PRNP_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
2
c.(204_227)del
r.(?)
p.(Pro84_Gln91)del
-
Parent #1
-
VUS
g.4680070_4680093del
g.4699424_4699447del
?_225del24
-
PRNP_000010
24 bp del upstream codon 76
{PMID08030960:Masullo 1994}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
DEM
-
-
-
?
?
Italy
-
-
-
-
-
1
Johan den Dunnen
?/?
2
c.(204_227)del
r.(?)
p.(Pro84_Gln91)del
-
Parent #2
-
VUS
g.4680070_4680093del
g.4699424_4699447del
?_225del25
-
PRNP_000010
24 bp del upstream codon 76
{PMID08030960:Masullo 1994}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
DEM
-
-
-
?
?
Italy
-
-
-
-
-
1
Johan den Dunnen
-/?
2
c.204_227del
r.(?)
p.(Pro84_Gln91)del
-
Maternal (confirmed)
-
benign
g.4680070_4680093del
g.4699424_4699447del
-
-
PRNP_000010
4-haplotype
{PMID10408557:Yamada 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
3-generation family, young son affected brother
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.204_227del
r.(?)
p.(Pro84_Gln91)del
-
Parent #1
-
likely benign
g.4680112_4680135del
g.4699466_4699489del
-
-
PRNP_000010
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
{PMID07485229:Perry 1995}
-
-
Germline
-
-
-
0
-
DNA
PCRdig, SEQ, SSCA
-
-
AD
-
-
-
?
?
United States
-
-
-
-
-
3
Johan den Dunnen
-/?
2
c.204_227del
r.(?)
p.(Pro84_Gln91)del
-
Parent #2
-
benign
g.4680070_4680093del
g.4699424_4699447del
-
-
PRNP_000010
incomplete penetrance
{PMID07902693:Pocchiari 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
CJD
-
-
3-generation family, 2 affected sisters, 2 unaffected carrier sisters
?
?
Italy
-
-
-
-
-
4
Johan den Dunnen
-/.
-
c.204_227del
r.(?)
p.(Pro84_Gln91del)
-
Unknown
-
benign
g.4680070_4680093del
g.4699424_4699447del
PRNP(NM_000311.4):c.204_227delTCATGGTGGTGGCTGGGGGCAGCC (p.P84_Q91del)
-
PRNP_000057
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.204_227del
r.(?)
p.(Pro84_Gln91del)
-
Unknown
-
benign
g.4680070_4680093del
g.4699424_4699447del
PRNP(NM_000311.4):c.204_227delTCATGGTGGTGGCTGGGGGCAGCC (p.P84_Q91del)
-
PRNP_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2
c.204_227dup
r.(?)
p.(Pro84_Gln91dup)
-
Paternal (inferred)
-
likely benign
g.4680070_4680093dup
g.4699424_4699447dup
1-OPRI, 225_226inscctcatggtggtggctgggggcag
-
PRNP_000046
OPRI-repeat, 1-2-2-2-3-4
PubMed: Beck 2010
-
-
Germline
no
-
-
0
-
DNA
SEQ
-
-
GSD
-
PubMed: Beck 2010
small family, affected male, affected untested brother, sister and mother
-
-
Italy
Sicily
>61y
0
-
-
1
Johan den Dunnen
+?/.
2
c.210T>C
r.(?)
p.(=)
-
Parent #1
-
likely pathogenic
g.4680076T>C
g.4699430T>C
-
-
PRNP_000011
-
PubMed: Goldfarb 1991
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
CJD
-
-
-
?
?
United States
-
-
-
-
-
3
Johan den Dunnen
+/?
2
c.210T>C
r.(?)
p.(=)
-
Parent #1
-
pathogenic
g.4680076T>C
g.4699430T>C
-
-
PRNP_000011
12-haplotype 1-2-2c-3-2-3-2-3-2-3g-3-4
{PMID01736177:Brown 1992}
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CJD
-
-
4-generation family, 2 affecteds
?
?
United States
-
-
-
-
-
2
Johan den Dunnen
+?/.
2
c.225_226ins204_227[4]
r.(?)
p.(Pro60_Gln67)[8]
9
Unknown
-
likely pathogenic
g.4680091_4680092ins96
-
4-OPRI
-
PRNP_000054
9 haplotype 1-2-2-2-2-2-2-3-4
PubMed: Owen 2014
-
-
Germline
?
-
-
0
-
DNA
SEQ
-
-
?
-
PubMed: Kaski 2011
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+/?
2
c.225_226ins204_251ins204_251ins204_251{246A>G}ins228_251
r.(?)
p.(Pro60_Gln67)[11]
-
Parent #1
-
pathogenic
g.4680115_4680116ins168
-
-
-
PRNP_000014
-
{PMID01736177:Brown 1992}
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CJD
-
-
4-generation family, 2 affecteds
?
?
United States
-
-
-
-
-
2
Johan den Dunnen
+?/.
2
c.225_226ins204_251ins204_251{246A>G}ins180_227
r.(?)
p.(Pro60_Gln67)[10]
11
Parent #1
-
likely pathogenic
g.4680091_4680092ins144
-
-
-
PRNP_000013
11 haplotype 1-2-2-2-3-2-3g-2-2-3-4
PubMed: Goldfarb 1991
-
-
Germline
?
-
-
0
-
DNA
PCR, SEQ
-
-
CJD
-
-
-
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.225_226ins204_251ins204_251{246A>G}ins180_227
r.(?)
p.(Pro60_Gln67)[10]
11
Parent #1
-
pathogenic
g.4680091_4680092ins144
-
6-OPRI
-
PRNP_000013
11 haplotype 1-2-2-2-3-2-3g-2-2-3-4
PubMed: Owen 2014
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
?
-
PubMed: Poulter 1992
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+?/?
2
c.225_226ins204_251[2]ins204_251{246G>A}ins228_251
r.(?)
p.(Pro60_Gln67)[11]
12
Parent #1
-
likely pathogenic
g.4680115_4680116ins168
-
-
-
PRNP_000047
12 haplotype 1-2-2c-3-2-3-2-3-2-3g-3-4
PubMed: Goldfarb 1991
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
CJD
-
-
-
?
?
United States
-
-
-
-
-
3
Johan den Dunnen
+?/.
2
c.225_226ins228_251{246A>G}ins204_227[4]
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
likely pathogenic
g.4680091_4680092ins120
-
5-OPRI
-
PRNP_000050
10 haplotype 1-2-2-3g-2-2-2-2-3-4 (English)
PubMed: Owen 2014
-
-
Germline
yes
-
-
0
-
DNA
DSDI, SEQ
Blood
-
?
-
-
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+?/.
2
c.225_226ins228_251{246A>G}ins204_227[4]
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
likely pathogenic
g.4680091_4680092ins120
-
-
-
PRNP_000050
10 haplotype 1-2-2-3g-2-2-2-2-3-4
PubMed: Mead 2007
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Mead 2007
3-generation family, 3 affecteds (2F, M)
?
no
-
-
-
0
-
-
3
Johan den Dunnen
+/?
2
c.225_226ins228_251{246A>G}ins228_251ins180_227ins180_227ins180_227
r.(?)
p.(Pro60_Gln67)[12]
-
Parent #1
-
pathogenic
g.4680115_4680116ins192
-
-
-
PRNP_000015
13-haplotype 1-2-2-3g-3-2-2-2-2-2-2-3-4
{PMID08595485:van Gool 1995}
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
DEM
-
-
3-generation family, 6 affecteds
?
?
Netherlands
-
-
-
-
-
6
Johan den Dunnen
+/.
2
c.225_226ins228_251{246A>G}[3]ins180_251
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
pathogenic
g.4680091_4680092ins120
-
-
-
PRNP_000053
10 haplotype 1-2-2-3g-3g-3g-2-2-3-4
PubMed: Skworc 1999
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
CJD
-
PubMed: Skworc 1999
3-generation family, 3 affecteds (3F)
F
no
Germany
-
-
0
-
-
3
Johan den Dunnen
+/.
-
c.227_228ins[TCATGGTGGTGGCTGGGGGCAGCC[2];CCATGGTGGTGGCTGGGGACAGCC;TCATGGTGGTGGCTGGGGGCAGCC[5]]
r.227_228ins[ucauggugguggcugggggcagcc[2];ccauggugguggcuggggacagcc;ucauggugguggcugggggcagcc[5]]
p.(Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln)
-
Unknown
-
pathogenic
g.4680093_4680094ins[TCATGGTGGTGGCTGGGGGCAGCC[2];CCATGGTGGTGGCTGGGGACAGCC;TCATGGTGGTGGCTGGGGGCAGCC[5]]
g.4699447_4699448ins[TCATGGTGGTGGCTGGGGGCAGCC[2];CCATGGTGGTGGCTGGGGACAGCC;TCATGGTGGTGGCTGGGGGCAGCC[5]]
-
-
PRNP_000064
-
PubMed: Lee 2019
ClinVar-000992388.1
-
Germline/De novo (untested)
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
blood
WES
?
Pat25
PubMed: Lee 2019
-
-
-
United States
-
-
0
-
-
1
Johan den Dunnen
-/.
-
c.228_251del
r.(?)
p.(Pro84_Gln91del)
-
Unknown
-
benign
g.4680094_4680117del
g.4699448_4699471del
PRNP(NM_000311.4):c.228_251delCCATGGTGGTGGCTGGGGACAGCC (p.P84_Q91del)
-
PRNP_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/?
2
c.246_269del
r.(?)
p.(Pro60_Gln67)[3]
-
Parent #1
-
likely benign
g.4680112_4680135del
g.4699466_4699489del
-
-
PRNP_000001
-
{PMID01357594:Bosque 1992}
-
-
Germline
-
-
TthIII1-
-
-
DNA
PCRdig, SEQ
-
-
CJD
-
-
3-generation family, 5 affecteds
?
?
United States
-
-
-
-
-
5
Johan den Dunnen
-/?
2
c.246_269del
r.(?)
p.(Pro60_Gln67)[4]
-
Parent #1
-
benign
g.4680112_4680135del
g.4699466_4699489del
-
-
PRNP_000001
4-haplotype
{PMID01347972:Vnencak-Jones 1992}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
CJD
-
-
multi-generation family
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
-/?
2
c.246_269del
r.(?)
p.(Pro60_Gln67)[4]
-
Unknown
-
benign
g.4680112_4680135del
g.4699466_4699489del
-
-
PRNP_000001
4-haplotype
{PMID01347972:Vnencak-Jones 1992}
-
-
Germline
-
6/240 chromosomes
-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
120 controls
?
?
United States
-
-
-
-
-
6
Johan den Dunnen
-?/?
2
c.246_269del
r.(?)
p.(Pro84_Gln91)del
-
Parent #1
-
likely benign
g.4680070_4680093del
g.4699424_4699447del
-
-
PRNP_000001
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
{PMID07485229:Perry 1995}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ, SSCA
-
-
AD
-
-
-
?
?
United States
-
-
-
-
-
3
Johan den Dunnen
-?/?
2
c.246_269del
r.(?)
p.(Pro84_Gln91)del
-
Parent #1
-
likely benign
g.4680112_4680135del
g.4699466_4699489del
-
-
PRNP_000001
4-haplotype
{PMID01678248:Puckett 1991}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
-
?
?
Italy
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.246_269del
r.(?)
p.(Pro84_Gln91del)
-
Unknown
-
benign
g.4680112_4680135del
g.4699466_4699489del
PRNP(NM_000311.4):c.246_269delACAGCCTCATGGTGGTGGCTGGGG (p.P84_Q91del)
-
PRNP_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.249_250ins180_227ins180_227ins180_227ins180_227{222G>A}
r.(?)
p.(Pro60_Gln67)[12]
13
Parent #1
-
likely pathogenic
g.4680115_4680116ins192
-
-
-
PRNP_000002
13 haplotype 1-2-2-3-2-2-2-2-2-2-2-2a-4
PubMed: Goldfarb 1991
-
-
Germline
?
-
-
0
-
DNA
PCR, SEQ
-
-
GSD
-
-
-
?
?
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.249_250ins180_227ins180_251
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
pathogenic
g.4680115_4680116ins120
-
-
-
PRNP_000052
10 haplotype 1-2-2-3-2-2-2-2-3-4
PubMed: Cochrane 1996
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
CJD
-
PubMed: Cochran 1996
6-generation family, 10 affecteds
?
no
United States
Ukrain;Jewish-Ashkenazi
-
0
-
-
10
Johan den Dunnen
+/?
2
c.249_250ins180_227ins204_251{246A>G}ins180_227ins204_251
r.(?)
p.(Pro60_Gln67)[12]
-
Parent #1
-
pathogenic
g.4680115_4680116ins192
-
-
-
PRNP_000003
13-haplotype 1-2-2-3-2-2-2-2a-2-2-2-3-4
{PMID10581230:Laplanche 1999}
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
GSD
-
-
5-generation family, 11 affecteds
?
?
France
-
-
-
-
-
11
Johan den Dunnen
+/.
2
c.249_250ins180_227ins204_251{246A>G}ins180_251
r.(?)
p.(Pro60_Gln67)[11]
12
Parent #1
-
pathogenic
g.4680115_4680116ins168
-
-
-
PRNP_000004
12 haplotype 1-2-2-3-2-2-2-3g-2-2-3-4
PubMed: Tateishi 1991
-
-
Germline
?
-
-
0
-
DNA
PCR, SEQ
-
-
DEM
-
-
family, 4 affecteds
?
?
Japan
-
-
-
-
-
4
Johan den Dunnen
+?/?
2
c.249_250ins204_227{222G>A}ins204_227{222G>A}
r.(?)
p.(Pro60_Gln67)[6]
-
Maternal (confirmed)
-
likely pathogenic
g.4680115_4680116ins48
-
-
-
PRNP_000005
7-haplotype 1-2-2-3-2a-2a-4
{PMID08232966:Goldfarb 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
affected proband, mother and maternal grandfather
?
?
United States
-
-
-
-
-
3
Johan den Dunnen
+?/.
2
c.249_250ins204_251ins204_251
r.(?)
p.(Pro60_Gln67)[8]
9
Parent #1
-
likely pathogenic
g.4680115_4680116ins96
-
-
-
PRNP_000008
9 haplotype 1-2-2-3-2-3-2-3-4
PubMed: Goldfarb 1991
-
-
Germline
?
-
-
0
-
DNA
PCR, SEQ
-
-
CIR
-
-
-
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.249_250ins204_251ins228_251{246A>G}ins180_227{222G>A}ins204_251ins204_251
r.(?)
p.(Pro60_Gln67)[13]
-
Parent #1
-
pathogenic
g.4680115_4680116ins216
-
-
-
PRNP_000009
14-haplotype 1-2-2-3-2-3-3g-2-2a-2-3-2-3-4
{PMID08750875:Krasemann 1995}
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
DEM
-
-
5-generation family, 4 affecteds
?
?
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/?
2
c.249_250ins204_251{246A>G}ins180_251
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
likely pathogenic
g.4680115_4680116ins120
-
-
-
PRNP_000006
10 haplotype 1-2-2-3-2-3g-2-2-3-4
PubMed: Goldfarb 1991
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
CJD
-
-
-
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
+?/.
2
c.249_250ins204_251{246A>G}ins180_251
r.(?)
p.(Pro60_Gln67)[9]
10
Parent #1
-
likely pathogenic
g.4680115_4680116ins120
-
5-OPRI
-
PRNP_000006
10 haplotype 1-2-2-3-2-3g-2-2-3-4 (Northern Ireland)
PubMed: Owen 2014
-
-
Germline
yes
-
-
0
-
DNA
DSDI, SEQ
Blood
-
?
-
PubMed: Mead 2007
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+?/.
2
c.249_250ins204_251{246A>G}ins180_251
r.(?)
p.(Pro60_Gln67)[9]
10
Unknown
-
likely pathogenic
g.4680115_4680116ins120
-
-
-
PRNP_000006
10 haplotype 1-2-2-3-2-3g-2-2-3-4
PubMed: Mead 2007
-
-
Unknown
?
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Mead 2007
-
F
no
Netherlands
-
-
0
-
-
1
Johan den Dunnen
+/?
2
c.249_250ins204_251{246A>G}ins204_227{222G>A}ins180_227ins204_251{246A>G}ins204_251
r.(?)
p.(Pro60_Gln67)[13]
-
Parent #1
-
pathogenic
g.4680115_4680116ins216
-
-
-
PRNP_000007
14-haplotype 1-2-2-3-2-3g-2a-2-2-2-3g-2-3-4
{PMID01349721:Owen 1992}
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
DEM
-
-
-
?
?
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
?/?
2
c.290G>A
r.(?)
p.(Ser97Asn)
-
Parent #1
-
VUS
g.4680156G>A
g.4699510G>A
-
-
PRNP_000016
-
-
-
rs56362942
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
?
?
- (not applicable)
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Parent #1
-
pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
{PMID02564168:Hsiao 1989}
-
-
Germline
-
-
DdeI+
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
4-generation family, 4 affecteds
?
?
United States
-
-
-
-
-
4
Johan den Dunnen
+/?
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Parent #1
-
pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
{PMID02564168:Hsiao 1989}
-
-
Germline
-
-
DdeI+
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
4-generation family, 19 affecteds
?
?
United Kingdom (Great Britain)
-
-
-
-
-
19
Johan den Dunnen
+/?
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Parent #1
-
pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
{PMID10889337:Muramoto 2000}
-
-
Germline
-
-
DdeI+
-
-
DNA, protein
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Parent #1
-
pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
{PMID10889337:Muramoto 2000}
-
-
Germline
-
-
DdeI+
-
-
DNA, protein
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Parent #1
-
pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
{PMID02572450:Goldgaber 1989}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
family, 3 affecteds
?
?
? (unknown)
-
-
-
-
-
3
Johan den Dunnen
+/.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Parent #1
-
pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
PubMed: Owen 2014
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CJD
-
PubMed: Owen 2014
-
-
-
-
-
-
0
-
-
135
J Beck
+/.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
Maternal (inferred)
-
likely pathogenic
g.4680171C>T
g.4699525C>T
-
-
PRNP_000017
-
PubMed: Beck 2010
-
-
Unknown
?
-
-
0
-
DNA
SEQ
-
-
GSD
-
PubMed: Beck 2010
small family, affected male, affected untested brother, sister and mother
-
-
Italy
Sicily
>61y
0
-
-
1
Johan den Dunnen
+/?
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Parent #1
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
{PMID08461023:Kitamoto 1993}
-
-
Germline
-
-
AluI+
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Parent #1
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
{PMID08461023:Kitamoto 1993}
-
-
Germline
-
-
AluI+
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Parent #1
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
{PMID08461023:Kitamoto 1993}
-
-
Germline
-
-
AluI+
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Parent #1
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
{PMID10408557:Yamada 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
DEM
-
-
3-generation family, 2 affected brothers
?
?
Japan
-
-
-
-
-
2
Johan den Dunnen
+/?
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Paternal (confirmed)
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
{PMID10408557:Yamada 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
3-generation family, young son affected brother
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
?/?
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Parent #1
-
VUS
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
-
-
rs11538758
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
?
?
- (not applicable)
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Paternal (inferred)
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
PubMed: Beck 2010
-
-
De novo
yes
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Beck 2010
-
F
?
United Kingdom (Great Britain)
-
>43y
0
-
-
1
Johan den Dunnen
+/.
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
Parent #1
-
pathogenic
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
PubMed: Owen 2014
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
?
-
-
-
-
-
United Kingdom (Great Britain)
-
-
0
-
-
1
J Beck
+/.
-
c.314C>T
r.(?)
p.(Pro105Leu)
-
Unknown
ACMG
pathogenic (dominant)
g.4680180C>T
g.4699534C>T
-
-
PRNP_000018
-
PubMed: Helbig 2016
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG
-
WES
seizures
Pat86
PubMed: Helbig 2016
-
-
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.314C>T
r.(?)
p.(Pro105Leu)
-
Unknown
-
pathogenic
g.4680180C>T
-
PRNP(NM_000311.4):c.314C>T (p.P105L)
-
PRNP_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.341G>T
r.(?)
p.(Gly114Val)
-
Parent #1
-
likely pathogenic
g.4680207G>T
g.4699561G>T
-
-
PRNP_000044
-
PubMed: Beck 2010
-
-
Unknown
?
-
-
0
-
DNA
SEQ
-
-
CJD
-
PubMed: Beck 2010
-
M
?
India
Inida, south
>75y
0
-
-
1
Johan den Dunnen
+?/.
2
c.341G>T
r.(?)
p.(Gly114Val)
-
Parent #1
-
likely pathogenic
g.4680207G>T
g.4699561G>T
-
-
PRNP_000044
variant not found in controls (Turkey, Uganda (Gujarati))
PubMed: Beck 2010
-
-
Unknown
?
-
-
0
-
DNA
SEQ
-
-
PRND
-
PubMed: Beck 2010
-
F
?
Turkey
-
-
0
-
-
1
Johan den Dunnen
-/?
2
c.350C>T
r.(?)
p.(Ala117Val)
-
Parent #1
-
benign
g.4680216C>T
g.4699570C>T
-
-
PRNP_000020
-
{PMID08829666:Palmer 1996}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
?
-
-
-
?
?
? (unknown)
-
-
-
-
-
1
Johan den Dunnen
-/?
2
c.350C>T
r.(?)
p.(Ala117Val)
-
Parent #1
-
benign
g.4680216C>T
g.4699570C>T
-
-
PRNP_000020
-
{PMID08829666:Palmer 1996}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
?
-
-
-
?
?
? (unknown)
-
-
-
-
-
1
Johan den Dunnen
+/?
2
c.350_351inv
r.(?)
p.(Ala117Val)
-
Paternal (inferred)
-
pathogenic
g.4680216_4680217inv
g.4699570_4699571inv
-
-
PRNP_000019
-
{PMID07501157:Mastrianni 1995}
-
-
Germline
-
-
PvuII-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
5-generation family, 11 affecteds
?
?
United States
-
-
-
-
-
11
Johan den Dunnen
+/.
2
c.350_351inv
r.(?)
p.(Ala117Val)
-
Parent #1
-
pathogenic
g.4680216_4680217inv
g.4699570_4699571inv
[350C>T;351>4G] (A117V)
-
PRNP_000019
-
PubMed: Owen 2014
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
-
-
-
-
-
-
-
-
-
0
-
-
1
J Beck
-/?
2
c.351A>G
r.(?)
p.(=)
-
Parent #1
-
benign
g.4680217A>G
g.4699571A>G
A117A
-
PRNP_000021
-
{PMID02564168:Hsiao 1989}
-
-
Germline
-
-
PvuII-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
4-generation family, 4 affecteds
?
?
United States
-
-
-
-
-
4
Johan den Dunnen
-/?
2
c.351A>G
r.(?)
p.(=)
-
Parent #1
-
benign
g.4680217A>G
g.4699571A>G
-
-
PRNP_000021
-
{PMID08829666:Palmer 1996}
-
-
Germline
-
7/124 chromosomes
PvuII-
-
-
DNA
PCRdig, SEQ
-
-
Healthy/Control
-
-
-
?
?
? (unknown)
-
-
-
-
-
7
Johan den Dunnen
-/?
2
c.351A>G
r.(?)
p.(=)
-
Maternal (confirmed)
-
benign
g.4680217A>G
g.4699571A>G
-
-
PRNP_000021
-
{PMID07501157:Mastrianni 1995}
-
-
Germline
-
-
PvuII-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
5-generation family, 11 affecteds
?
?
United States
-
-
-
-
-
11
Johan den Dunnen
-/?
2
c.351A>G
r.(?)
p.(=)
-
Parent #2
-
benign
g.4680217A>G
g.4699571A>G
A117A
-
PRNP_000021
-
{PMID07902693:Pocchiari 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
CJD
-
-
-
?
?
Italy
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.351A>G
r.(?)
p.(Ala117=)
-
Unknown
-
benign
g.4680217A>G
g.4699571A>G
PRNP(NM_000311.4):c.351A>G (p.A117=)
-
PRNP_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.351A>G
r.(?)
p.(Ala117=)
-
Unknown
-
benign
g.4680217A>G
g.4699571A>G
PRNP(NM_000311.4):c.351A>G (p.A117=)
-
PRNP_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.351A>G
r.(?)
p.(Ala117=)
-
Unknown
-
benign
g.4680217A>G
g.4699571A>G
PRNP(NM_000311.4):c.351A>G (p.A117=)
-
PRNP_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/?
2
c.372C>G
r.(?)
p.(=)
-
Parent #2
-
benign
g.4680238C>G
g.4699592C>G
-
-
PRNP_000022
-
{PMID07916191:Ghetti 1994}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
large multi-generation family
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
-/?
2
c.372C>G
r.(?)
p.(=)
-
Parent #1
-
benign
g.4680238C>G
g.4699592C>G
421C>G (G124G)
-
PRNP_000022
-
{PMID10790216:Peoc'h 2000}
-
-
Germline
-
-
EcoO109I-
-
-
DNA
PCRdig, SEQ
-
-
CJD
-
-
patient and affected carrier brother
?
?
Italy
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.372C>G
r.(?)
p.(Gly124=)
-
Unknown
-
likely benign
g.4680238C>G
-
PRNP(NM_000311.4):c.372C>G (p.G124=)
-
PRNP_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.372C>G
r.(?)
p.(Gly124=)
-
Unknown
-
likely benign
g.4680238C>G
-
PRNP(NM_000311.4):c.372C>G (p.G124=)
-
PRNP_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Paternal (inferred)
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID07501157:Mastrianni 1995}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
5-generation family, 11 affecteds
?
?
United States
-
-
-
-
-
11
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Maternal (confirmed)
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID07501157:Mastrianni 1995}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
5-generation family, 11 affecteds
?
?
United States
-
-
-
-
-
11
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID08461023:Kitamoto 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID08461023:Kitamoto 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID08461023:Kitamoto 1993}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
-
?
?
Japan
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID07916191:Ghetti 1994}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
large multi-generation family
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID07916191:Ghetti 1994}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
GSD
-
-
large multi-generation family
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID07783865:Reder 1995}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
FFI
-
-
-
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Maternal (confirmed)
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID07783865:Reder 1995}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
FFI
-
-
-
?
?
United States
-
-
-
-
-
1
Johan den Dunnen
-?/?
2
c.385A>G
r.(?)
p.(Met129Val)
-
Parent #1
-
likely benign
g.4680251A>G
g.4699605A>G
-
-
PRNP_000023
-
{PMID08030960:Masullo 1994}
-
-
Germline
-
-
-
-
-
DNA
PCRdig, SEQ
-
-
DEM
-
-
-
?
?
Italy
-
-
-
-
-
1
Johan den Dunnen
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