Variant Results

or

Results for "VAV2"

Variant Events: 34

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

VAV2

20-0301772-22

chr9:
136654367-136654367

G

A

intronic

De novo

-

1.652E-5

Satterstrom2020 E

VAV2

AU3906301

chr9:
136782604-136782604

C

T

intronic

De novo

-

Yuen2017 G

VAV2

2-1222-003

chr9:
136633668-136633668

C

T

exonic

De novo

nonsynonymous SNV

NM_003371
NM_001134398

c.G2368A
c.G2485A

p.A790T
p.A829T

21.2

-

Yuen2016 G
Yuen2017 G

VAV2

Li2017:21

chr9:
136633641-136633641

G

A

exonic

Unknown

nonsynonymous SNV

NM_003371
NM_001134398

c.C2395T
c.C2512T

p.R799W
p.R838W

20.0

5.778E-5

Li2017 T

VAV2

2-1549-003

chr9:
136818917-136818917

C

T

intronic

De novo

-

Yuen2017 G

VAV2

1-0395-004

chr9:
136751856-136751856

C

T

intronic

De novo

-

Yuen2017 G

VAV2

1-0912-003

chr9:
136776118-136776118

G

A

intronic

De novo

-

Yuen2017 G

VAV2

1693001

chr9:
136633645-136633645

C

T

exonic

De novo

synonymous SNV

NM_003371
NM_001134398

c.G2391A
c.G2508A

p.S797S
p.S836S

-

1.0E-4

Fu2022 E

VAV2

A22

chr9:
136671227-136671227

T

C

exonic

De novo

nonsynonymous SNV

NM_003371
NM_001134398

c.A797G
c.A812G

p.K266R
p.K271R

18.93

-

Wu2018 G

VAV2

AU3779301

chr9:
136772477-136772477

G

A

intronic

De novo

-

Yuen2017 G

VAV2

AU4183301

chr9:
136846340-136846340

G

A

intronic

De novo

-

Yuen2017 G

VAV2

1-0579-003

chr9:
136815633-136815633

G

A

intronic

De novo

-

Yuen2017 G

VAV2

1-0282-003

chr9:
136887843-136887843

G

C

intergenic

De novo

-

Yuen2017 G

VAV2

5-0041-003

chr9:
136769035-136769035

G

A

intronic

De novo

-

Yuen2017 G

VAV2

1-0381-003

chr9:
136749466-136749466

A

G

intronic

De novo

-

Yuen2017 G

VAV2

AU3713301

chr9:
136879445-136879445

A

T

intergenic

De novo

-

Yuen2017 G

VAV2

2-0011-004

chr9:
136720781-136720781

G

GAAGACCAAAAGGTGGGTCCTTGAAGCCAT

intronic

De novo

-

Yuen2017 G

VAV2

2-1258-004

chr9:
136799120-136799120

A

G

intronic

De novo

-

Yuen2017 G

VAV2

2-0088-003

chr9:
136788786-136788786

T

C

intronic

De novo

-

Yuen2017 G

VAV2

2-1431-003

chr9:
136687850-136687850

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

VAV2

AU030804

chr9:
136659178-136659178

G

A

intronic

De novo

-

Yuen2017 G

VAV2

A16

chr9:
136633641-136633641

G

A

exonic

De novo

nonsynonymous SNV

NM_003371
NM_001134398

c.C2395T
c.C2512T

p.R799W
p.R838W

20.0

5.778E-5

Wu2018 G

VAV2

SP0125396

chr9:
136637183-136637183

G

A

intronic

De novo

-

Fu2022 E

VAV2

1-0395-003

chr9:
136751856-136751856

C

T

intronic

De novo

-

Yuen2017 G

VAV2

2-0132-004

chr9:
136847329-136847330

AG

A

intronic

De novo

-

Yuen2017 G

VAV2

iHART3304

chr9:
136653567-136653567

C

A

exonic

De novo

nonsynonymous SNV

NM_003371
NM_001134398

c.G1301T
c.G1316T

p.R434L
p.R439L

29.4

-

Ruzzo2019 G

VAV2

1-0401-003

chr9:
136740404-136740404

C

T

intronic

De novo

-

Yuen2017 G

VAV2

1-0346-004

chr9:
136792748-136792748

G

A

intronic

De novo

-

Yuen2017 G

VAV2

AU072005

chr9:
136656528-136656528

G

A

intronic

De novo

-

Yuen2017 G

VAV2

2-1169-004

chr9:
136679906-136679906

G

A

intronic

De novo

-

Yuen2017 G

VAV2

SP0055475

chr9:
136652289-136652289

C

T

intronic

De novo

-

Fu2022 E

VAV2

Li2017:16082

chr9:
136633641-136633641

G

A

exonic

Unknown

nonsynonymous SNV

NM_003371
NM_001134398

c.C2395T
c.C2512T

p.R799W
p.R838W

20.0

5.778E-5

Li2017 T

VAV2

1-0706-003

chr9:
136727814-136727814

G

A

intronic

De novo

-

Yuen2017 G

VAV2

2-1379-003

chr9:
136684323-136684323

T

C

intronic

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
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