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Results for "VWF"

Variant Events: 27

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
VWF     AU4344301chr12:
6078696-6078696
GAintronicDe novo--Yuen2017 G
VWF     2-0303-004chr12:
6254220-6254220
ACintergenicDe novo--Yuen2017 G
VWF     1-0303-003chr12:
6057746-6057746
CCCAGGdownstreamDe novo--Yuen2017 G
VWF     2-1266-003chr12:
6170109-6170109
GAintronicDe novo--Yuen2017 G
VWF     AU3637301chr12:
6168194-6168194
AGintronicDe novo--Yuen2017 G
VWF     13775.p1chr12:
6127879-6127879
GAexonicDe novononsynonymous SNVNM_000552c.C4705Tp.R1569C17.281.654E-5Satterstrom2020 E
VWF     1-0568-003chr12:
6253946-6253946
AGintergenicDe novo--Yuen2017 G
VWF     iHART1064chr12:
6219749-6219749
CTsplicingMaternalsplicing12.77-Ruzzo2019 G
VWF     iHART1060chr12:
6219749-6219749
CTsplicingMaternalsplicing12.77-Ruzzo2019 G
VWF     11641.p1chr12:
6094774-6094774
CTexonicMosaic, De novononsynonymous SNVNM_000552c.G6856Ap.G2286R14.468.348E-6Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
VWF     iHART1412chr12:
6182789-6182789
GTexonicPaternalstopgainNM_000552c.C993Ap.C331X40.08.241E-6Ruzzo2019 G
VWF     AU017703chr12:
6078962-6078964
GCAGintronicDe novo--Yuen2017 G
VWF     1-0329-003chr12:
6249240-6249240
GCintergenicDe novo--Yuen2017 G
VWF     2-1729-003chr12:
6262289-6262289
CTintergenicDe novo--Yuen2017 G
VWF     G01-GEA-37-HIchr12:
6122757-6122757
CTexonicMosaicnonsynonymous SNVNM_000552c.G5510Ap.R1837Q15.874.119E-5Lim2017 E
VWF     1-0354-006chr12:
6072007-6072007
GTintronicDe novo--Yuen2017 G
VWF     AU2156303chr12:
6127111-6127111
ACintronicDe novo--Yuen2017 G
VWF     CC1090.202chr12:
6080864-6080864
GAexonicDe novosynonymous SNVNM_000552c.C7449Tp.Y2483Y-3.312E-5Satterstrom2020 E
VWF     1-0259-003chr12:
6245055-6245055
TCintergenicDe novo--Yuen2017 G
VWF     14159.p1chr12:
6127784-6127784
CTexonicDe novosynonymous SNVNM_000552c.G4800Ap.A1600A-4.132E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
VWF     1-0454-003chr12:
6178535-6178535
GAintronicDe novo--Yuen2016 G
Yuen2017 G
VWF     JASD_Fam0076chr12:
6121251-6121251
AGsplicingDe novosplicing19.04-Takata2018 E
VWF     AU2000305chr12:
6209622-6209622
GAintronicDe novo--Yuen2017 G
VWF     2-1521-003chr12:
6266047-6266047
AGintergenicDe novo--Yuen2017 G
VWF     2-0135-003chr12:
6254749-6254749
CTintergenicDe novo--Yuen2017 G
VWF     1-0565-003chr12:
6254744-6254744
GAintergenicDe novo--Yuen2017 G
VWF     04HI2741Achr12:
6078535-6078535
GAexonicDe novononsynonymous SNVNM_000552c.C7571Tp.P2524L4.1475.801E-5Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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