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Results for "G3BP1"

Variant Events: 32

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     2-1170-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     7-0095-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0206-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     2-0202-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0052-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     12548.p1chr5:
151175017-151175021
TTAAATintronicDe novo--Krumm2015 E
Satterstrom2020 E
G3BP1     2-0145-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     5-0026-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     JASD_Fam0022chr5:
151180332-151180332
GAexonicDe novononsynonymous SNVNM_005754
NM_198395
c.G1096A
c.G1096A
p.V366M
p.V366M
19.91-Takata2018 E
G3BP1     3-0134-000chr5:
151166277-151166277
GAsplicingDe novosplicing14.6-Tammimies2015 E
Yuen2017 G
G3BP1     2-1283-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     2-0116-005chr5:
151198620-151198620
CTintergenicDe novo--Yuen2017 G
G3BP1     SP0042629chr5:
151179781-151179781
CTexonicDe novononsynonymous SNVNM_005754
NM_198395
c.C958T
c.C958T
p.R320C
p.R320C
16.442.474E-5Feliciano2019 E
G3BP1     1-0052-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0380-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0303-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     5-0129-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0206-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0448-003chr5:
151172328-151172328
CAintronicDe novo--Yuen2017 G
G3BP1     1-0885-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0271-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     2-0145-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0303-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0336-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     7-0095-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     NDAR_INVDR082LLL_wes1chr5:
151166215-151166215
GAexonicMosaicnonsynonymous SNVNM_005754
NM_198395
c.G34A
c.G34A
p.G12R
p.G12R
26.78.237E-6Lim2017 E
G3BP1     1-0271-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     3-0438-000chr5:
151184413-151184413
CAUTR3De novo--Yuen2016 G
G3BP1     2-0289-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0382-003chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0534-006chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
G3BP1     1-0153-004chr5:
151167423-151167423
TTGTTTTCAATACTGintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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