Variant Results

or

Results for "G3BP2"

Variant Events: 11

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

G3BP2

2-1230-003

chr4:
76588617-76588617

T

A

intronic

De novo

-

Yuen2017 G

G3BP2

AU2139301

chr4:
76587685-76587685

C

T

intronic

De novo

-

Yuen2017 G

G3BP2

2-0272-003

chr4:
76598616-76598616

C

A

UTR5

De novo

-

Yuen2017 G

G3BP2

1-0522-003

chr4:
76592144-76592144

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

G3BP2

SSC04979

chr4:
76580350-76580350

A

G

exonic

De novo

nonsynonymous SNV

NM_012297
NM_203504
NM_203505

c.T626C
c.T626C
c.T626C

p.L209P
p.L209P
p.L209P

10.36

-

Lim2017 E

G3BP2

AU056204

chr4:
76610373-76610373

A

T

intergenic

De novo

-

Yuen2017 G

G3BP2

12523.p1

chr4:
76580350-76580350

A

G

exonic

De novo, Mosaic

nonsynonymous SNV

NM_012297
NM_203504
NM_203505

c.T626C
c.T626C
c.T626C

p.L209P
p.L209P
p.L209P

10.36

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E

G3BP2

1-0010-005

chr4:
76625603-76625603

C

CT

intergenic

De novo

-

Yuen2017 G

G3BP2

MAC961

chr4:
76587173-76587173

G

A

exonic

De novo

nonsynonymous SNV

NM_012297
NM_203504
NM_203505

c.C37T
c.C37T
c.C37T

p.R13W
p.R13W
p.R13W

8.585

-

Fu2022 E
Satterstrom2020 E

G3BP2

2-1261-003

chr4:
76582916-76582916

T

C

splicing

De novo

splicing

18.66

-

Yuen2017 G

G3BP2

AU3913302

chr4:
76613906-76613906

T

C

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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