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Results for "CLCNKA"

Variant Events: 6

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
CLCNKA     10644chr1:
16358236-16358236
ACexonicDe novononsynonymous SNVNM_001257139
NM_001042704
NM_004070
c.A1525C
c.A1654C
c.A1654C
p.N509H
p.N552H
p.N552H
11.99-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CLCNKA     Lim2017:10644chr1:
16358236-16358236
ACexonicDe novononsynonymous SNVNM_001257139
NM_001042704
NM_004070
c.A1525C
c.A1654C
c.A1654C
p.N509H
p.N552H
p.N552H
11.99-Lim2017 E
CLCNKA     JASD_Fam0017chr1:
16352629-16352629
AGexonicDe novononsynonymous SNVNM_001257139
NM_001042704
NM_004070
c.A256G
c.A385G
c.A385G
p.M86V
p.M129V
p.M129V
9.84-Takata2018 E
CLCNKA     SP0125546chr1:
16359003-16359003
ACexonicDe novosynonymous SNVNM_001257139
NM_001042704
NM_004070
c.A1782C
c.A1908C
c.A1911C
p.S594S
p.S636S
p.S637S
--Fu2022 E
CLCNKA     7-0266-003chr1:
16356964-16356964
GAexonicDe novononsynonymous SNVNM_001257139
NM_001042704
NM_004070
c.G1288A
c.G1417A
c.G1417A
p.A430T
p.A473T
p.A473T
19.5-Trost2022 G
Zhou2022 GE
CLCNKA     SSC05666chr1:
16352704-16352704
ACexonicDe novononsynonymous SNVNM_001257139
NM_001042704
NM_004070
c.A331C
c.A460C
c.A460C
p.T111P
p.T154P
p.T154P
14.13-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 notesView
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