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Results for "CLCNKB"

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
CLCNKB     13062.p1chr1:
16374867-16374867
GCexonicDe novononsynonymous SNVNM_000085c.G528Cp.M176I5.898.267E-6Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CLCNKB     SP0020563chr1:
16378853-16378853
CGexonicDe novosynonymous SNVNM_001165945
NM_000085
c.C1062G
c.C1569G
p.T354T
p.T523T
--Fu2022 E
Trost2022 G
Zhou2022 GE
CLCNKB     13346.p1chr1:
16374437-16374437
TGexonicDe novosynonymous SNVNM_000085c.T396Gp.G132G--Satterstrom2020 E
CLCNKB     1-0190-003chr1:
16373354-16373354
CTintronicDe novo--Yuen2017 G
CLCNKB     SP0045094chr1:
16374828-16374828
CTintronicDe novo-8.346E-6Fu2022 E
Trost2022 G
CLCNKB     5920chr1:
16374437-16374437
TGexonicDe novosynonymous SNVNM_000085c.T396Gp.G132G--Trost2022 G
CLCNKB     08C77684chr1:
16375706-16375706
GAexonicDe novononsynonymous SNVNM_001165945
NM_000085
c.G240A
c.G747A
p.M80I
p.M249I
0.6851.0E-4DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Zhou2022 GE
CLCNKB     13062_p1chr1:
16374867-16374867
GCexonicDe novononsynonymous SNVNM_000085c.G528Cp.M176I5.898.267E-6Fu2022 E
CLCNKB     2-1342-003chr1:
16376358-16376358
CGexonicDe novononsynonymous SNVNM_001165945
NM_000085
c.C408G
c.C915G
p.I136M
p.I305M
9.328-Jiang2013 G
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE
CLCNKB     1-0295-003chr1:
16381070-16381070
GAintronicDe novo--Trost2022 G
Yuen2017 G
CLCNKB     SP0197637chr1:
16383395-16383395
CTexonicDe novononsynonymous SNVNM_001165945
NM_000085
c.C1538T
c.C2048T
p.P513L
p.P683L
15.521.691E-5Trost2022 G
Trost2022 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 notesView
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