Variant Results

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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

Chen2017:114

chr13:
42265576-42265576

C

A

exonic

De novo

nonsynonymous SNV

NM_015058

c.G3746T

p.S1249I

10.54

-

Chen2017 E

VWA8

7-0059-003

chr13:
42372997-42372997

C

T

intronic

De novo

-

-

Yuen2017 G

VWA8

12160.p1

chr13:
42306199-42306199

A

G

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

VWA8

AU4145301

chr13:
42291910-42291910

A

G

intronic

De novo

-

-

Yuen2017 G

VWA8

SP0018345

chr13:
42161659-42161659

C

T

exonic

De novo

nonsynonymous SNV

NM_015058

c.G5260A

p.E1754K

14.81

-

Feliciano2019 E

VWA8

200675707@1082034133

chr13:
42265576-42265576

C

A

exonic

De novo

nonsynonymous SNV

NM_015058

c.G3746T

p.S1249I

10.54

-

Satterstrom2020 E

VWA8

A32

chr13:
42214098-42214098

G

T

intronic

De novo

-

-

Wu2018 G

VWA8

1-0677-003

chr13:
42308252-42308252

G

T

intronic

De novo

-

-

Yuen2017 G

VWA8

1-0446-003

chr13:
42295789-42295789

T

TGCTC

intronic

De novo

-

-

Yuen2017 G

VWA8

08C79050

chr13:
42460095-42460095

G

A

exonic

Mosaic

synonymous SNV

NM_001009814
NM_015058

c.C936T
c.C936T

p.D312D
p.D312D

-

-

Lim2017 E

VWA8

1-0138-004

chr13:
42142998-42143002

GGTTA

G

intronic

De novo

-

-

Yuen2017 G

VWA8

Lim2017:4913

chr13:
42295597-42295597

G

C

exonic

De novo

nonsynonymous SNV

NM_001009814
NM_015058

c.C2873G
c.C2873G

p.A958G
p.A958G

27.0

Lim2017 E

VWA8

iHART2730

chr13:
42461381-42461381

A

AG

exonic

Paternal

frameshift insertion

NM_001009814
NM_015058

c.767dupC
c.767dupC

p.P256fs
p.P256fs

-

Ruzzo2019 G

VWA8

AU10204

chr13:
42293799-42293799

A

G

exonic

De novo

nonsynonymous SNV

NM_001009814
NM_015058

c.T3044C
c.T3044C

p.I1015T
p.I1015T

7.774

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

VWA8

1-0674-004

chr13:
42484488-42484488

C

T

intronic

De novo

-

-

Yuen2017 G

VWA8

1-0595-005

chr13:
42172578-42172578

C

G

intronic

De novo

-

-

Yuen2017 G

VWA8

2-0285-004

chr13:
42399819-42399819

T

G

intronic

De novo

-

-

Yuen2017 G

VWA8

2-1434-003

chr13:
42337544-42337544

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

VWA8

1-0138-003

chr13:
42282956-42282956

A

T

intronic

De novo

-

-

Yuen2017 G

VWA8

1-0265-003

chr13:
42496566-42496566

A

G

intronic

De 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 notes	View
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