Home
Publications
Statistics
Downloads
About
Documentation
Gene Symbol:
Submit
or
Region:
Submit
or
Sample:
Exact
Submit
Home
Search by gene
Results for "GAB4"
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
GAB4
1-0756-004
chr22:
17461201-17461201
A
C
intronic
De novo
-
-
Yuen2017
G
GAB4
JASD_Fam0175
chr22:
17469020-17469020
G
A
exonic
De novo
synonymous SNV
NM_001037814
c.C516T
p.L172L
-
-
Takata2018
E
GAB4
SP0027566
chr22:
17443754-17443754
A
G
exonic
De novo
nonsynonymous SNV
NM_001037814
c.T1594C
p.S532P
15.23
8.358E-6
Fu2022
E
GAB4
SP0031206
chr22:
17450976-17450976
C
T
exonic
De novo
nonsynonymous SNV
NM_001037814
c.G794A
p.G265D
5.795
-
Fu2022
E
GAB4
2-1735-003
chr22:
17490751-17490751
G
A
intergenic
De novo
-
-
Yuen2017
G
GAB4
1-0368-004
chr22:
17455773-17455773
G
A
intronic
De novo
-
-
Yuen2017
G
GAB4
AU3636301
chr22:
17500670-17500670
G
T
intergenic
De novo
-
-
Yuen2017
G
GAB4
AU4168306
chr22:
17501680-17501680
T
C
intergenic
De novo
-
-
Yuen2017
G
GAB4
1-0382-004
chr22:
17456318-17456318
G
T
intronic
De novo
-
-
Yuen2017
G
GAB4
NP050
chr22:
17469020-17469020
G
A
exonic
De novo
synonymous SNV
NM_001037814
c.C516T
p.L172L
-
-
Fu2022
E
Satterstrom2020
E
GAB4
2-1085-003
chr22:
17491215-17491215
C
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
More