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Results for "KCNK10"

Variant Events: 15

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
KCNK10     2-0208-003chr14:
88783507-88783507
TCintronicDe novo--Yuen2017 G
KCNK10     JASD_Fam0002chr14:
88652413-88652413
CTexonicDe novosynonymous SNVNM_021161
NM_138317
NM_138318
c.G1083A
c.G1098A
c.G1098A
p.E361E
p.E366E
p.E366E
--Takata2018 E
KCNK10     AU3727303chr14:
88695896-88695896
TCintronicDe novo--Trost2022 G
Yuen2017 G
KCNK10     1-1072-003chr14:
88775140-88775140
CGintronicDe novo--Trost2022 G
KCNK10     MT_26.3chr14:
88725372-88725372
CTintronicDe novo--Trost2022 G
KCNK10     AU2320301chr14:
88758817-88758817
CTintronicDe novo--Trost2022 G
KCNK10     1-0261-003chr14:
88666582-88666582
TAintronicDe novo--Trost2022 G
KCNK10     MSSNG00017-004chr14:
88691788-88691788
TCintronicDe novo--Trost2022 G
KCNK10     SP0118621chr14:
88789363-88789363
CAUTR5De novo--Fu2022 E
Trost2022 G
KCNK10     1-0197-003chr14:
88825236-88825236
GAintergenicDe novo--Yuen2017 G
KCNK10     SP0034451chr14:
88652276-88652276
CTexonicDe novononsynonymous SNVNM_021161
NM_138317
NM_138318
c.G1220A
c.G1235A
c.G1235A
p.R407H
p.R412H
p.R412H
14.843.299E-5Fu2022 E
Trost2022 G
Zhou2022 GE
KCNK10     SP0035356chr14:
88652429-88652429
CTexonicDe novononsynonymous SNVNM_021161
NM_138317
NM_138318
c.G1067A
c.G1082A
c.G1082A
p.R356Q
p.R361Q
p.R361Q
35.0-Fu2022 E
Trost2022 G
Zhou2022 GE
KCNK10     2-1415-004chr14:
88692177-88692177
AGintronicDe novo--Trost2022 G
Yuen2017 G
KCNK10     11194.p1chr14:
88784431-88784431
ACintronicDe novo--Turner2016 G
KCNK10     1-0161-004chr14:
88668577-88668577
TCintronicDe novo--Trost2022 G
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 notesView
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