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Results for "CLCA4"
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
CLCA4
AU027506
chr1:
87082970-87082970
A
G
intergenic
De novo
-
-
Yuen2017
G
CLCA4
AU072004
chr1:
87062675-87062675
G
A
intergenic
De novo
-
-
Yuen2017
G
CLCA4
AU4129303
chr1:
87064010-87064010
T
A
intergenic
De novo
-
-
Yuen2017
G
CLCA4
2-1362-004
chr1:
87029705-87029705
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CLCA4
SP0152513
chr1:
87030896-87030896
A
G
intronic
De novo
-
-
Fu2022
E
CLCA4
09C86256
chr1:
87043692-87043692
G
A
exonic
De novo
nonsynonymous SNV
NM_012128
c.G2059A
p.A687T
11.44
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CLCA4
EGAN00001101206
chr1:
87031073-87031073
T
A
exonic
De novo
nonsynonymous SNV
NM_012128
c.T674A
p.F225Y
16.45
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CLCA4
TRE_206
chr1:
87031052-87031052
T
G
exonic
De novo
nonsynonymous SNV
NM_012128
c.T653G
p.L218R
13.09
-
Fu2022
E
CLCA4
4-0062-003
chr1:
87016219-87016221
ATC
TTT
intronic
De novo
-
-
Trost2022
G
CLCA4
2-1693-003
chr1:
87074996-87074996
G
A
intergenic
De novo
-
-
Yuen2017
G
CLCA4
AU3716301
chr1:
87095050-87095050
G
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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