Global Variome shared LOVD
ZNF687 (zinc finger protein 687)
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LOVD-team, but with Curator vacancy
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The variants shown are described using the NM_020832.1 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 protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect 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
ClassClinical
: Classification of the variant based on the clinical consequences as published or submitted. NOTE: this classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). Classification should preferably be performed using standardised criteria; e.g. ACMG: 5 (dominant) (= disease associated, dominant inheritance), ACMG: 5 (recessive) (= disease associated, recessive inheritance), pathogenic (dominant), pathogenic (recessive), likely pathogenic (recessive) , VUS (= variant of unknown significance), likely benign (= likely not disease-associated), benign (= not disease-associated), non-disease phenotype, drug response, risk factor, associated with, etc. NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional
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.
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
- = not applicable
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)
ASMM RTQ-PCR = allele-specific methylated multiplex real-time quantitative PCR
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CAGE = Cap analysis gene expression
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 = microscope (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
MSREs = Methylation sensitive restriction enzymes
MS-SeQMA = Methylation-specific Sequence-based quantitative methylation analysis
Ms-SNuPE = Methylation-sensitive single-nucleotide primer extension
MyoD = myoD induced differentiation
Northern = Northern blotting
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
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)
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
QMPSF = Quantitative Multiplex PCR of Short Fluorescent fragments
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
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
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:
? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents
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))
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. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.
Age/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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Legend
Effect
Exon
DNA change (cDNA)
ClassClinical
RNA change
Protein
Allele
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/Death
VIP
Data_av
Treatment
Panel size
Owner
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Maternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
not in 1128 control chromosomes
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
yes
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam1PatV4
PubMed: Divisato 2016
,
Journal: Divisato 2016
5-generation family, 14-affecteds (9F, 5M)
M
no
Italy
Italian
>35y
0
-
-
14
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Maternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
not in 1128 control chromosomes
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
yes
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam1PatV18
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
no
Italy
Italian
>41y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Maternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
not in 1128 control chromosomes
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
yes
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam1PatV11
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
no
Italy
Italian
>41y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Maternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam2PatII1
PubMed: Divisato 2016
,
Journal: Divisato 2016
2-generation family, 3 affecteds (2F, M)
M
no
Italy
Italian
>45y
0
-
-
3
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Maternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam2PatII3
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
no
Italy
Italian
>26y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB1
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
-
Italy
Italian
>33y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB2
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
-
United States
Italian
-
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB3
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
-
United States
Italian
-
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB4
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
-
United States
Italian
-
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB5
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
-
Italy
Italian
>38y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB6
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
-
Italy
Italian
-
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatGCT/PDB7
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
-
Italy
Italian
>46y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatPDB1
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
-
Italy
Italian
>37y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatPDB2
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
M
-
Italy
Italian
>39y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatPDB3
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
-
Italy
Italian
>53y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatPDB4
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
-
Canada
French-Canadian
>61y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Parent #1
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
-
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-PatPDB5
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
F
-
Canada
French-Canadian
>59y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Paternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
yes
-
-
0
-
DNA
IHC, PCRq, SEQ, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam3PatII1
PubMed: Divisato 2016
,
Journal: Divisato 2016
family, 3-affected siblings, Pat3II1
M
-
Italy
Italian
>50y
0
-
-
3
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Paternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
yes
-
-
0
-
DNA
IHC, PCRq, SEQ-NG-I, SEQ-NG-R, Western
-
-
PDB
26849110-Fam3PatII2
PubMed: Divisato 2016
,
Journal: Divisato 2016
PatII2
F
-
Italy
Italian
>59y
0
-
-
1
Jamie Zeegers
+/.
6
c.2810C>G
-
r.(?)
p.(Pro937Arg)
Paternal (inferred)
g.151262329C>G
g.151289853C>G
-
-
ZNF687_000001
-
PubMed: Divisato 2016
,
Journal: Divisato 2016
-
-
Germline
yes
-
-
0
-
DNA
SEQ
-
-
PDB
26849110-Fam3PatII3
PubMed: Divisato 2016
,
Journal: Divisato 2016
PatII3
F
-
Italy
Italian
>43y
0
-
-
1
Jamie Zeegers
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