Variant Results

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Results for "RAB3GAP1"

Variant Events: 19

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

RAB3GAP1

Li2017:23085

chr2:
135926193-135926198

GACTTC

G

exonic

Unknown

frameshift deletion

NM_012233
NM_001172435

c.2789_2793del
c.2810_2814del

p.D930fs
p.D937fs

-

-

Li2017 T

RAB3GAP1

AU2075301

chr2:
135875209-135875209

T

G

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

Li2017:23812

chr2:
135878392-135878392

T

C

exonic

Unknown

nonsynonymous SNV

NM_001172435
NM_012233

c.T652C
c.T652C

p.C218R
p.C218R

22.4

-

Li2017 T

RAB3GAP1

2-1306-003

chr2:
135882707-135882707

G

A

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

AU4164301

chr2:
135944292-135944292

G

A

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP1

2-1306-004

chr2:
135882707-135882707

G

A

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

Li2017:24

chr2:
135892855-135892855

A

T

exonic

Unknown

nonsynonymous SNV

NM_001172435
NM_012233

c.A1520T
c.A1520T

p.D507V
p.D507V

24.1

-

Li2017 T

RAB3GAP1

AU3399302

chr2:
135915503-135915503

G

A

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

AU2075302

chr2:
135875209-135875209

T

G

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

AU075803

chr2:
135941816-135941816

C

T

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP1

AU3057302

chr2:
135869445-135869445

T

C

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

1-0553-003

chr2:
135901964-135901964

T

C

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

11216.p1

chr2:
135809963-135809963

G

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

RAB3GAP1

2-1460-003

chr2:
135834818-135834818

C

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

iHART2944

chr2:
135920417-135920417

T

A

exonic

Paternal

stopgain

NM_001172435
NM_012233

c.T2486A
c.T2486A

p.L829X
p.L829X

38.0

-

Ruzzo2019 G

RAB3GAP1

12071.p1

chr2:
135887644-135887644

G

A

exonic

De novo

synonymous SNV

NM_001172435
NM_012233

c.G1053A
c.G1053A

p.E351E
p.E351E

-

-

Krumm2015 E

RAB3GAP1

1-0104-004

chr2:
135828317-135828317

C

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

AU056803

chr2:
135852414-135852414

G

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP1

Li2017:18911

chr2:
135892855-135892855

A

T

exonic

Unknown

nonsynonymous SNV

NM_001172435
NM_012233

c.A1520T
c.A1520T

p.D507V
p.D507V

24.1

-

Li2017 T

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
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