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Results for "CLEC7A"

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
CLEC7A     14646.p1chr12:
10280034-10280034
GAexonicMosaic, De novosynonymous SNVNM_197954c.C210Tp.F70F--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CLEC7A     AU3891303chr12:
10301360-10301360
CGintergenicDe novo--Yuen2017 G
CLEC7A     A31chr12:
10298724-10298724
TTTAintergenicDe novo--Wu2018 G
CLEC7A     AU051504chr12:
10274024-10274024
GTintronicDe novo--Yuen2017 G
CLEC7A     1-0551-003chr12:
10282621-10282621
CTexonicDe novononsynonymous SNVNM_022570
NM_197947
NM_197948
NM_197949
NM_197950
NM_197954
c.G61A
c.G61A
c.G61A
c.G61A
c.G61A
c.G61A
p.D21N
p.D21N
p.D21N
p.D21N
p.D21N
p.D21N
13.518.591E-6Yuen2017 G
CLEC7A     1-0745-003chr12:
10290540-10290540
CTintergenicDe novo--Yuen2017 G
CLEC7A     Lim2017:37095chr12:
10280034-10280034
GAexonicMosaicsynonymous SNVNM_197954c.C210Tp.F70F--Lim2017 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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