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Results for "VWA8"

Variant Events: 20

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
VWA8     Chen2017:114chr13:
42265576-42265576
CAexonicDe novononsynonymous SNVNM_015058c.G3746Tp.S1249I10.54-Chen2017 E
VWA8     7-0059-003chr13:
42372997-42372997
CTintronicDe novo--Yuen2017 G
VWA8     12160.p1chr13:
42306199-42306199
AGintronicDe novo-1.691E-5Krumm2015 E
Satterstrom2020 E
VWA8     AU4145301chr13:
42291910-42291910
AGintronicDe novo--Yuen2017 G
VWA8     SP0018345chr13:
42161659-42161659
CTexonicDe novononsynonymous SNVNM_015058c.G5260Ap.E1754K14.81-Feliciano2019 E
VWA8     200675707@1082034133chr13:
42265576-42265576
CAexonicDe novononsynonymous SNVNM_015058c.G3746Tp.S1249I10.54-Satterstrom2020 E
VWA8     A32chr13:
42214098-42214098
GTintronicDe novo--Wu2018 G
VWA8     1-0677-003chr13:
42308252-42308252
GTintronicDe novo--Yuen2017 G
VWA8     1-0446-003chr13:
42295789-42295789
TTGCTCintronicDe novo--Yuen2017 G
VWA8     08C79050chr13:
42460095-42460095
GAexonicMosaicsynonymous SNVNM_001009814
NM_015058
c.C936T
c.C936T
p.D312D
p.D312D
--Lim2017 E
VWA8     1-0138-004chr13:
42142998-42143002
GGTTAGintronicDe novo--Yuen2017 G
VWA8     Lim2017:4913chr13:
42295597-42295597
GCexonicDe novononsynonymous SNVNM_001009814
NM_015058
c.C2873G
c.C2873G
p.A958G
p.A958G
27.04.0E-4Lim2017 E
VWA8     iHART2730chr13:
42461381-42461381
AAGexonicPaternalframeshift insertionNM_001009814
NM_015058
c.767dupC
c.767dupC
p.P256fs
p.P256fs
-1.0E-4Ruzzo2019 G
VWA8     AU10204chr13:
42293799-42293799
AGexonicDe novononsynonymous SNVNM_001009814
NM_015058
c.T3044C
c.T3044C
p.I1015T
p.I1015T
7.774-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
VWA8     1-0674-004chr13:
42484488-42484488
CTintronicDe novo--Yuen2017 G
VWA8     1-0595-005chr13:
42172578-42172578
CGintronicDe novo--Yuen2017 G
VWA8     2-0285-004chr13:
42399819-42399819
TGintronicDe novo--Yuen2017 G
VWA8     2-1434-003chr13:
42337544-42337544
GAintronicDe novo--Yuen2016 G
Yuen2017 G
VWA8     1-0138-003chr13:
42282956-42282956
ATintronicDe novo--Yuen2017 G
VWA8     1-0265-003chr13:
42496566-42496566
AGintronicDe novo--Yuen2017 G
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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