Home
Publications
Statistics
Downloads
About
Documentation
Gene Symbol:
Submit
or
Region:
Submit
or
Sample:
Exact
Submit
Home
Search by gene
Results for "ADGRA2"
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
ADGRA2
Lee2014:2
chr8:
37688966-37688966
G
A
exonic
Paternal
nonsynonymous SNV
NM_032777
c.G958A
p.V320M
13.47
0.0095
Lee2014
E
ADGRA2
2-1368-003
chr8:
37671387-37671387
G
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
ADGRA2
Lee2014:2
chr8:
37699298-37699298
G
T
exonic
Maternal
stopgain
NM_032777
c.G3442T
p.E1148X
37.0
-
Lee2014
E
ADGRA2
iHART2795
chr8:
37688971-37688971
G
A
exonic
Paternal
stopgain
NM_032777
c.G963A
p.W321X
35.0
-
Ruzzo2019
G
ADGRA2
iHART3095
chr8:
37688362-37688362
C
T
exonic
Paternal
stopgain
NM_032777
c.C853T
p.R285X
33.0
4.364E-5
Ruzzo2019
G
ADGRA2
A9
chr8:
37673873-37673873
G
A
intronic
De novo
-
-
Wu2018
G
ADGRA2
iHART3094
chr8:
37688362-37688362
C
T
exonic
Paternal
stopgain
NM_032777
c.C853T
p.R285X
33.0
4.364E-5
Ruzzo2019
G
ADGRA2
Lee2014:1
chr8:
37699298-37699298
G
T
exonic
Maternal
stopgain
NM_032777
c.G3442T
p.E1148X
37.0
-
Lee2014
E
ADGRA2
SP0127239
chr8:
37692931-37692931
A
T
intronic
De novo
-
-
Fu2022
E
ADGRA2
Lee2014:1
chr8:
37688966-37688966
G
A
exonic
Paternal
nonsynonymous SNV
NM_032777
c.G958A
p.V320M
13.47
0.0095
Lee2014
E
ADGRA2
SP0119120
chr8:
37692830-37692830
G
C
exonic
De novo
nonsynonymous SNV
NM_032777
c.G1747C
p.E583Q
11.69
-
Fu2022
E
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