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Results for "CLCC1"

Variant Events: 7

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
CLCC1     2-1508-003chr1:
109484371-109484371
GTintronicDe novo--Yuen2017 G
CLCC1     1-0402-003chr1:
109510471-109510471
CTintergenicDe novo--Yuen2017 G
CLCC1     A21chr1:
109473268-109473268
TCUTR3De novo--Wu2018 G
CLCC1     2-0273-003chr1:
109495219-109495219
GCintronicDe novo--Yuen2017 G
CLCC1     SSC07419chr1:
109490271-109490271
AGexonicDe novosynonymous SNVNM_001278202
NM_001278203
NM_001048210
NM_015127
c.T301C
c.T301C
c.T301C
c.T301C
p.L101L
p.L101L
p.L101L
p.L101L
--Lim2017 E
CLCC1     11838.p1chr1:
109490271-109490271
AGexonicDe novosynonymous SNVNM_001278202
NM_001278203
NM_001048210
NM_015127
c.T301C
c.T301C
c.T301C
c.T301C
p.L101L
p.L101L
p.L101L
p.L101L
--Krumm2015 E
Satterstrom2020 E
CLCC1     111299chr1:
109482667-109482667
CGexonicnonsynonymous SNVNM_001278202
NM_001048210
NM_015127
c.G531C
c.G894C
c.G744C
p.K177N
p.K298N
p.K248N
25.58.275E-6Woodbury-Smith2022 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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