Variant Results

or

Results for "VAV3"

Variant Events: 45

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

VAV3

2-1094-004

chr1:
108113398-108113398

T

C

downstream

De novo

-

Yuen2017 G

VAV3

AU3680302

chr1:
108117235-108117235

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

2-1360-003

chr1:
108403599-108403599

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

VAV3

5-0087-003

chr1:
108460067-108460067

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

1-0153-005

chr1:
108113604-108113604

A

G

downstream

De novo

-

Yuen2017 G

VAV3

4-0056-003

chr1:
108135041-108135041

C

T

intronic

De novo

-

Trost2022 G

VAV3

SSC03844

chr1:
108303413-108303414

AG

A

exonic

De novo

frameshift deletion

NM_006113

c.1009delC

p.L337fs

-

Fu2022 E
Trost2022 G

VAV3

1-0088-003

chr1:
108124771-108124771

C

T

intronic

De novo

-

Trost2022 G

VAV3

1-0534-003

chr1:
108142480-108142481

AA

TTTTTTTTTTTTTTTTTT

intronic

De novo

-

Trost2022 G

VAV3

1-1158-003

chr1:
108135680-108135680

C

T

intronic

De novo

-

Trost2022 G

VAV3

09C90753A

chr1:
108138879-108138879

G

C

exonic

De novo

nonsynonymous SNV

NM_001079874
NM_006113

c.C625G
c.C2305G

p.P209A
p.P769A

13.52

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VAV3

1-1100-003

chr1:
108230829-108230829

C

T

intronic

De novo

-

Trost2022 G

VAV3

1-0200-004

chr1:
108321598-108321598

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

AU4149301

chr1:
108414275-108414275

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

REACH000316

chr1:
108198784-108198784

G

A

intronic

De novo

-

Trost2022 G

VAV3

REACH000209

chr1:
108318233-108318233

C

A

intronic

De novo

-

Trost2022 G

VAV3

AU2562301

chr1:
108242902-108242905

TTAA

T

intronic

De novo

-

Trost2022 G

VAV3

2-1210-003

chr1:
108142480-108142483

AAGA

TTTTTTTTTT

intronic

De novo

-

Trost2022 G

VAV3

1-0191-004

chr1:
108142480-108142483

AAGA

TTTTTTTT

intronic

De novo

-

Trost2022 G

VAV3

MSSNG00241-003

chr1:
108198612-108198612

T

A

intronic

De novo

-

Trost2022 G

VAV3

13949.p1

chr1:
108309132-108309132

T

C

exonic

De novo

nonsynonymous SNV

NM_006113

c.A758G

p.H253R

7.052

1.727E-5

Lim2017 E

VAV3

7-0332-003

chr1:
108181603-108181603

A

G

intronic

De novo

-

Trost2022 G

VAV3

AU055603

chr1:
108428606-108428606

C

G

intronic

De novo

-

Trost2022 G

VAV3

14642.p1

chr1:
108130484-108130484

G

A

intronic

De novo

-

Turner2016 G

VAV3

MSSNG00353-004

chr1:
108420737-108420737

A

G

intronic

De novo

-

Trost2022 G

VAV3

1-0092-003

chr1:
108433593-108433601

GGTTTTTTT

TATGTAA

intronic

De novo

-

Trost2022 G

VAV3

1-0092-003

chr1:
108433588-108433590

ATT

TG

intronic

De novo

-

Trost2022 G

VAV3

7-0224-003

chr1:
108362724-108362724

G

T

intronic

De novo

-

Trost2022 G

VAV3

MSSNG00039-004

chr1:
108350644-108350644

C

T

intronic

De novo

-

Trost2022 G

VAV3

12087.p1

chr1:
108303413-108303414

AG

A

exonic

De novo

frameshift deletion

NM_006113

c.1009delC

p.L337fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

VAV3

AU3794301

chr1:
108395616-108395616

A

G

intronic

De novo

-

Trost2022 G

VAV3

3-0295-000

chr1:
108376605-108376605

T

C

intronic

De novo

-

Trost2022 G

VAV3

1-0412-003

chr1:
108113620-108113620

T

TCCGGG

downstream

De novo

-

Yuen2017 G

VAV3

5-0050-004

chr1:
108113620-108113620

T

TCCGGG

downstream

De novo

-

Yuen2017 G

VAV3

2-1781-003

chr1:
108480622-108480622

C

T

intronic

De novo

-

Trost2022 G

VAV3

1-0285-003

chr1:
108460162-108460162

C

CAAACCTGATTGACTAAAAGAATGATGAT

intronic

De novo

-

Trost2022 G

VAV3

2-1255-003

chr1:
108267459-108267459

A

G

intronic

De novo

-

Yuen2017 G

VAV3

2-1383-003

chr1:
108422909-108422909

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

2-1591-003

chr1:
108404284-108404284

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

SP0214200

chr1:
108507419-108507419

A

C

exonic

De novo

nonsynonymous SNV

NM_006113

c.T73G

p.W25G

12.99

-

Trost2022 G

VAV3

AU024607

chr1:
108260779-108260779

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VAV3

AU3765303

chr1:
108152552-108152552

C

G

splicing

Paternal

splicing

21.9

-

Cirnigliaro2023 G

VAV3

2-0273-003

chr1:
108113398-108113398

T

C

downstream

De novo

-

Yuen2017 G

VAV3

2-1360-003

chr1:
108403597-108403597

T

C

intronic

De novo

-

Yuen2017 G

VAV3

1-0625-003

chr1:
108113398-108113398

T

C

downstream

De novo

-

Yuen2017 G

Source Variant Information

, -

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
	More