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Results for "ARID5A"
Variant Events: 12
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
ARID5A
2-1261-004
chr2:
97239369-97239369
G
A
intergenic
De novo
-
-
Yuen2017
G
ARID5A
6263
chr2:
97217536-97217536
T
C
exonic
De novo
nonsynonymous SNV
NM_212481
c.T1271C
p.V424A
6.721
-
Fu2022
E
ARID5A
1-0010-005
chr2:
97214533-97214533
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ARID5A
GEA362
chr2:
97217022-97217022
G
A
exonic
De novo
nonsynonymous SNV
NM_212481
c.G757A
p.G253S
29.3
8.301E-6
Fu2022
E
ARID5A
SP0039844
chr2:
97202613-97202613
G
A
intronic
De novo
-
-
Fu2022
E
Trost2022
G
ARID5A
2-1335-003
chr2:
97250764-97250764
T
A
intergenic
De novo
-
-
Yuen2017
G
ARID5A
1-0494-003
chr2:
97231999-97231999
T
C
intergenic
De novo
-
-
Yuen2017
G
ARID5A
AU036203
chr2:
97254834-97254834
T
A
intergenic
De novo
-
-
Yuen2017
G
ARID5A
5-5237-003
chr2:
97210586-97210586
G
A
intronic
De novo
-
-
Trost2022
G
ARID5A
2-1116-003
chr2:
97215971-97215971
G
T
exonic
De novo
nonsynonymous SNV
NM_212481
c.G359T
p.G120V
29.1
-
Jiang2013
G
ARID5A
10C105650
chr2:
97215971-97215971
G
T
exonic
De novo
nonsynonymous SNV
NM_212481
c.G359T
p.G120V
29.1
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
ARID5A
1-0494-003A
chr2:
97231999-97231999
T
C
intergenic
De 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 notes
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