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Results for "KCNC1"

Variant Events: 8

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
KCNC1     AU4032305chr11:
17793890-17793890
GTexonicDe novononsynonymous SNVNM_001112741
NM_004976
c.G1249T
c.G1249T
p.G417W
p.G417W
19.07-Yuen2017 G
KCNC1     AU3051303chr11:
17770132-17770132
CAintronicDe novo--Yuen2017 G
KCNC1     12975.p1chr11:
17793530-17793530
GAexonicMosaic, De novononsynonymous SNVNM_001112741
NM_004976
c.G889A
c.G889A
p.G297S
p.G297S
17.681.648E-5Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
KCNC1     11016.p1chr11:
17793358-17793358
CTexonicMosaicsynonymous SNVNM_001112741
NM_004976
c.C717T
c.C717T
p.A239A
p.A239A
-9.884E-5Dou2017 E
Krupp2017 E
KCNC1     SSC06417chr11:
17793530-17793530
GAexonicDe novononsynonymous SNVNM_001112741
NM_004976
c.G889A
c.G889A
p.G297S
p.G297S
17.681.648E-5Lim2017 E
KCNC1     AU3861301chr11:
17803211-17803211
AGintronicDe novo--Yuen2017 G
KCNC1     iHART3262chr11:
17793890-17793890
GTexonicDe novononsynonymous SNVNM_001112741
NM_004976
c.G1249T
c.G1249T
p.G417W
p.G417W
19.07-Ruzzo2019 G
KCNC1     7-0251-003chr11:
17764792-17764793
AGAGGintronicDe 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 notesView
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