Variant Results

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Results for "RAB3GAP2"

Variant Events: 27

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

RAB3GAP2

11252.p1

chr1:
220626748-220626748

C

T

intergenic

De novo

-

-

Turner2016 G

RAB3GAP2

AU4215302

chr1:
220504468-220504468

G

A

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

AU4452302

chr1:
220376475-220376475

A

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

2-0270-004

chr1:
220588257-220588257

G

A

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

AU4308302

chr1:
220469114-220469114

A

G

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

JASD_Fam0018

chr1:
220363844-220363844

A

C

exonic

De novo

stopgain

NM_012414

c.T1506G

p.Y502X

38.0

-

Takata2018 E

RAB3GAP2

Li2017:23668

chr1:
220387280-220387280

C

A

exonic

Unknown

nonsynonymous SNV

NM_012414

c.G222T

p.W74C

22.8

-

Li2017 T

RAB3GAP2

2-0300-004

chr1:
220322197-220322197

A

AAGTT

UTR3

De novo

-

-

Yuen2017 G

RAB3GAP2

08C73727

chr1:
220355649-220355649

C

T

exonic

De novo

nonsynonymous SNV

NM_012414

c.G2260A

p.D754N

16.16

-

Satterstrom2020 E

RAB3GAP2

AU2863303

chr1:
220416398-220416398

A

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

AU4191302

chr1:
220409769-220409769

C

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

2-0127-004

chr1:
220620197-220620197

A

G

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

2-1430-003

chr1:
220513739-220513739

T

C

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

5-0125-003

chr1:
220473939-220473939

T

C

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

1-0067-004

chr1:
220698309-220698309

T

C

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

2-1148-004

chr1:
220534417-220534417

C

T

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

1-0460-003

chr1:
220506645-220506645

T

C

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

AU073006

chr1:
220558528-220558528

A

G

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

2-1325-003

chr1:
220427076-220427076

G

A

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

Li2017:15084

chr1:
220379275-220379275

C

T

exonic

Unknown

nonsynonymous SNV

NM_012414

c.G686A

p.R229H

35.0

Li2017 T

RAB3GAP2

1-0052-003

chr1:
220333529-220333529

C

T

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

1-0336-003

chr1:
220361159-220361159

G

C

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

5-0003-004

chr1:
220429638-220429638

G

A

intronic

De novo

-

-

Yuen2017 G

RAB3GAP2

Cukier2014:7531

chr1:
220379266-220379266

C

T

exonic

Unknown

nonsynonymous SNV

NM_012414

c.G695A

p.R232Q

35.0

Cukier2014 E

RAB3GAP2

1-0150-004

chr1:
220460068-220460068

T

C

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

AU050910

chr1:
220451386-220451386

G

A

intergenic

De novo

-

-

Yuen2017 G

RAB3GAP2

5-0054-003

chr1:
220483867-220483867

G

T

intergenic

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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