Variant Results

or

Results for "G3BP1"

Variant Events: 33

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

G3BP1

2-1170-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

7-0095-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0206-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

2-0202-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0052-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

12548.p1

chr5:
151175017-151175021

TTAAA

T

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

G3BP1

2-0145-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

5-0026-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

JASD_Fam0022

chr5:
151180332-151180332

G

A

exonic

De novo

nonsynonymous SNV

NM_005754
NM_198395

c.G1096A
c.G1096A

p.V366M
p.V366M

19.91

-

Takata2018 E

G3BP1

3-0134-000

chr5:
151166277-151166277

G

A

splicing

De novo

splicing

14.6

-

Tammimies2015 E
Yuen2017 G

G3BP1

2-1283-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

2-0116-005

chr5:
151198620-151198620

C

T

intergenic

De novo

-

Yuen2017 G

G3BP1

SP0042629

chr5:
151179781-151179781

C

T

exonic

De novo

nonsynonymous SNV

NM_005754
NM_198395

c.C958T
c.C958T

p.R320C
p.R320C

16.44

2.474E-5

Feliciano2019 E
Fu2022 E

G3BP1

1-0052-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0380-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0303-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

5-0129-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0206-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0448-003

chr5:
151172328-151172328

C

A

intronic

De novo

-

Yuen2017 G

G3BP1

1-0885-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0271-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

2-0145-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0303-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0336-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

7-0095-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

NDAR_INVDR082LLL_wes1

chr5:
151166215-151166215

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005754
NM_198395

c.G34A
c.G34A

p.G12R
p.G12R

26.7

8.237E-6

Lim2017 E

G3BP1

1-0271-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

3-0438-000

chr5:
151184413-151184413

C

A

UTR3

De novo

-

Yuen2016 G

G3BP1

2-0289-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0382-003

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

1-0534-006

chr5:
151167423-151167423

T

TGTTTTCAATACTG

intronic

De novo

-

Yuen2017 G

G3BP1

SP0071419

chr5:
151183518-151183518

C

T

exonic

De novo

stopgain

NM_005754
NM_198395

c.C1267T
c.C1267T

p.R423X
p.R423X

36.0

-

Fu2022 E

G3BP1

1-0153-004

chr5:
151167423-151167423

T

TGTTTTCAATACTG

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
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