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Results for "ARHGEF12"
Variant Events: 16
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
ARHGEF12
2-1089-004
chr11:
120310233-120310233
G
A
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
2-1734-003
chr11:
120344556-120344556
C
G
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
AU1860302
chr11:
120278541-120278541
C
T
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
1-0556-003
chr11:
120260777-120260777
C
T
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
2-1142-003
chr11:
120343336-120343336
G
T
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
7-0219-003
chr11:
120283228-120283228
G
A
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
1-0923-003
chr11:
120332002-120332002
T
C
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
2-1220-003
Complex Event; expand row to view variants
De novo
-
-
Yuen2016
G
Yuen2017
G
ARHGEF12
SJD_34
chr11:
120291542-120291542
G
A
exonic
Paternal
nonsynonymous SNV
NM_001198665
NM_015313
c.G223A
c.G280A
p.V75I
p.V94I
33.0
4.217E-5
Toma2013
E
ARHGEF12
2-1629-003
chr11:
120256464-120256464
C
T
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
7902-03-002
chr11:
120295031-120295033
ATG
A
intronic
De novo
-
-
Satterstrom2020
E
ARHGEF12
AU3846302
chr11:
120353321-120353321
G
T
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
SP0124588
chr11:
120312855-120312855
A
T
exonic
De novo
stopgain
NM_001198665
NM_001301084
NM_015313
c.A1189T
c.A937T
c.A1246T
p.K397X
p.K313X
p.K416X
42.0
-
Antaki2022
G
E
Fu2022
E
ARHGEF12
AU3857301
chr11:
120283510-120283510
A
G
intronic
De novo
-
-
Yuen2017
G
ARHGEF12
CC1279_202
chr11:
120291501-120291501
A
G
exonic
De novo
nonsynonymous SNV
NM_001198665
NM_015313
c.A182G
c.A239G
p.N61S
p.N80S
27.7
8.352E-6
Fu2022
E
ARHGEF12
SP0044893
chr11:
120351138-120351138
A
C
exonic
De novo
synonymous SNV
NM_001198665
NM_001301084
NM_015313
c.A4179C
c.A3927C
c.A4236C
p.S1393S
p.S1309S
p.S1412S
-
-
Fu2022
E
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 notes
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