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Results for "VWA8"

Variant Events: 49

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     12160.p1chr13:
42306199-42306199
AGintronicDe novo-1.691E-5Krumm2015 E
Satterstrom2020 E
VWA8     1-0677-003chr13:
42308252-42308252
GTintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     1-0446-003chr13:
42295789-42295789
TTGCTCintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     08C79050chr13:
42460095-42460095
GAexonicMosaicsynonymous SNVNM_001009814
NM_015058
c.C936T
c.C936T
p.D312D
p.D312D
--Lim2017 E
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     2-0285-004chr13:
42399819-42399819
TGintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     SP0078543chr13:
42144861-42144861
GTintronicDe novo--Fu2022 E
VWA8     AU4145301chr13:
42291910-42291910
AGintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     SP0056754chr13:
42245207-42245207
TCexonicDe novononsynonymous SNVNM_015058c.A4486Gp.K1496E7.55-Fu2022 E
Trost2022 G
Zhou2022 GE
VWA8     200675707@1082034133chr13:
42265576-42265576
CAexonicDe novononsynonymous SNVNM_015058c.G3746Tp.S1249I10.54-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
VWA8     1-0138-004chr13:
42142998-42143002
GGTTAGintronicDe novo--Yuen2017 G
VWA8     1-0265-003chr13:
42496566-42496566
AGintronicDe novo--Yuen2017 G
VWA8     Chen2017:114chr13:
42265576-42265576
CAexonicDe novononsynonymous SNVNM_015058c.G3746Tp.S1249I10.54-Chen2017 E
VWA8     SP0018345chr13:
42161659-42161659
CTexonicDe novononsynonymous SNVNM_015058c.G5260Ap.E1754K14.81-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
VWA8     mAGRE4244chr13:
42481763-42481763
GAexonicPaternalstopgainNM_001009814
NM_015058
c.C442T
c.C442T
p.R148X
p.R148X
38.04.119E-5Cirnigliaro2023 G
VWA8     mAGRE5509chr13:
42461381-42461381
AAGexonicMaternalframeshift insertionNM_001009814
NM_015058
c.767dupC
c.767dupC
p.P256fs
p.P256fs
-1.0E-4Cirnigliaro2023 G
VWA8     mAGRE2730chr13:
42461381-42461381
AAGexonicPaternalframeshift insertionNM_001009814
NM_015058
c.767dupC
c.767dupC
p.P256fs
p.P256fs
-1.0E-4Cirnigliaro2023 G
VWA8     AU3907302chr13:
42352123-42352123
GAexonicPaternalstopgainNM_001009814
NM_015058
c.C2347T
c.C2347T
p.Q783X
p.Q783X
42.0-Cirnigliaro2023 G
VWA8     AU3907301chr13:
42352123-42352123
GAexonicPaternalstopgainNM_001009814
NM_015058
c.C2347T
c.C2347T
p.Q783X
p.Q783X
42.0-Cirnigliaro2023 G
VWA8     1-0595-005chr13:
42172578-42172578
CGintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     1-0138-003chr13:
42282956-42282956
ATintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     7-0059-003chr13:
42372997-42372997
CTintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     A32chr13:
42214098-42214098
GTintronicDe novo--Wu2018 G
VWA8     5-5185-003chr13:
42191196-42191196
TCintronicDe novo--Trost2022 G
VWA8     7-0298-003chr13:
42197833-42197833
GAintronicDe novo--Trost2022 G
VWA8     REACH000409chr13:
42171807-42171807
TCintronicDe novo--Trost2022 G
VWA8     2-1091-003chr13:
42183410-42183410
GCintronicDe novo--Trost2022 G
VWA8     MSSNG00003-004chr13:
42141389-42141393
CTTTTCUTR3De novo--Trost2022 G
VWA8     2-1775-003chr13:
42143735-42143736
AGAintronicDe novo--Trost2022 G
VWA8     SSC04810chr13:
42306199-42306199
AGintronicDe novo-1.691E-5Trost2022 G
VWA8     7-0388-003chr13:
42345877-42345877
GTintronicDe novo--Trost2022 G
VWA8     AU2463301chr13:
42261967-42261967
GAintronicDe novo--Trost2022 G
VWA8     AU10204chr13:
42293799-42293799
AGexonicDe novononsynonymous SNVNM_001009814
NM_015058
c.T3044C
c.T3044C
p.I1015T
p.I1015T
7.774-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
VWA8     AU2653301chr13:
42291243-42291243
CGintronicDe novo--Trost2022 G
VWA8     200675707_1082034133chr13:
42265576-42265576
CAexonicDe novononsynonymous SNVNM_015058c.G3746Tp.S1249I10.54-Fu2022 E
VWA8     MSSNG00121-003chr13:
42231001-42231001
ACintronicDe novo--Trost2022 G
VWA8     SJD_49.4chr13:
42251714-42251714
CTintronicDe novo--Trost2022 G
VWA8     3-0325-000chr13:
42204621-42204621
GAintronicDe novo--Trost2022 G
VWA8     1-0674-004chr13:
42484488-42484488
CTintronicDe novo--Trost2022 G
Yuen2017 G
VWA8     1-1015-003Achr13:
42227035-42227035
AGintronicDe novo--Trost2022 G
VWA8     SP0026753chr13:
42460061-42460061
TCexonicDe novononsynonymous SNVNM_001009814
NM_015058
c.A970G
c.A970G
p.I324V
p.I324V
13.128.195E-5Trost2022 G
Zhou2022 GE
VWA8     MSSNG00466-003chr13:
42476344-42476344
GAintronicDe novo--Trost2022 G
VWA8     7-0017-003Achr13:
42535011-42535011
GAexonicDe novosynonymous SNVNM_001009814
NM_015058
c.C141T
c.C141T
p.H47H
p.H47H
--Trost2022 G
Zhou2022 GE
VWA8     1-0288-004chr13:
42405492-42405492
TCintronicDe novo--Trost2022 G
VWA8     2-1434-003chr13:
42337544-42337544
GAintronicDe novo--Yuen2016 G
Yuen2017 G
VWA8     MSSNG00396-003chr13:
42429154-42429154
ACintronicDe novo--Trost2022 G
VWA8     MSSNG00109-003chr13:
42371428-42371428
GAintronicDe novo--Trost2022 G
VWA8     REACH000558chr13:
42390216-42390216
GAintronicDe novo--Trost2022 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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