Variant Results

or

or

Results for "GAB2"

Variant Events: 17

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

GAB2

2-1210-003

chr11:
78122733-78122733

T

C

intronic

De novo

-

-

Yuen2017 G

GAB2

SP0077151

chr11:
77991619-77991619

T

G

intronic

De novo

-

-

Fu2022 E

GAB2

AU1987301

chr11:
77958150-77958150

C

T

intronic

De novo

-

-

Yuen2017 G

GAB2

200675414_1082034482

chr11:
77938015-77938015

C

G

exonic

De novo

nonsynonymous SNV

NM_012296
NM_080491

c.G589C
c.G703C

p.G197R
p.G235R

7.766

-

Fu2022 E

GAB2

AU3951302

chr11:
78023783-78023783

A

G

intronic

De novo

-

-

Yuen2017 G

GAB2

AU3861301

chr11:
77984033-77984033

G

C

intronic

De novo

-

-

Yuen2017 G

GAB2

1-0125-003

chr11:
78019000-78019000

G

A

intronic

De novo

-

-

Yuen2017 G

GAB2

Chen2017:28

chr11:
77938015-77938015

C

G

exonic

De novo

nonsynonymous SNV

NM_012296
NM_080491

c.G589C
c.G703C

p.G197R
p.G235R

7.766

-

Chen2017 E

GAB2

2-1736-003

chr11:
78029558-78029558

T

C

intronic

De novo

-

-

Yuen2017 G

GAB2

1-0336-004

chr11:
78003810-78003810

T

C

intronic

De novo

-

-

Yuen2017 G

GAB2

AU3175302

chr11:
78025211-78025211

C

T

intronic

De novo

-

-

Yuen2017 G

GAB2

2-1277-003

chr11:
77960739-77960739

T

C

intronic

De novo

-

-

Yuen2017 G

GAB2

Lim2017:37434

chr11:
77937662-77937662

T

G

exonic

De novo

synonymous SNV

NM_012296
NM_080491

c.A942C
c.A1056C

p.P314P
p.P352P

-

Lim2017 E

GAB2

AU2433303

chr11:
78085288-78085288

T

C

intronic

De novo

-

-

Yuen2017 G

GAB2

200675414@1082034482

chr11:
77938015-77938015

C

G

exonic

De novo

nonsynonymous SNV

NM_012296
NM_080491

c.G589C
c.G703C

p.G197R
p.G235R

7.766

-

Satterstrom2020 E

GAB2

Cukier2014:37994

chr11:
77961261-77961261

C

T

exonic

Unknown

nonsynonymous SNV

NM_012296
NM_080491

c.G448A
c.G562A

p.A150T
p.A188T

13.66

-

Cukier2014 E

GAB2

AU3729301

chr11:
78053689-78053689

C

T

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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