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Results for "C10orf128"

Variant Events: 10

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
C10orf128     1-0763-004chr10:
50362147-50362147
GAdownstreamDe novo--Yuen2017 G
C10orf128     2-1382-003chr10:
50495552-50495552
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
C10orf128     2-0149-005chr10:
50425022-50425022
TCintergenicDe novo--Yuen2017 G
C10orf128     1-0329-004chr10:
50494668-50494668
ATintergenicDe novo--Yuen2017 G
C10orf128     7-0035-003chr10:
50422224-50422224
GAintergenicDe novo--Yuen2017 G
C10orf128     Cukier2014:7936chr10:
50376004-50376004
AGexonicUnknownnonsynonymous SNVNM_001010863
NM_001288740
NM_001288741
NM_001288742
NM_001288743
c.T47C
c.T47C
c.T47C
c.T47C
c.T47C
p.V16A
p.V16A
p.V16A
p.V16A
p.V16A
13.670.037Cukier2014 E
C10orf128     2-1632-003chr10:
50394740-50394740
AGintronicDe novo--Yuen2017 G
C10orf128     AU3777301chr10:
50491574-50491574
GAintergenicDe novo--Yuen2017 G
C10orf128     2-0295-003chr10:
50494410-50494410
AAGintergenicDe novo--Yuen2017 G
C10orf128     1-0834-003chr10:
50459630-50459630
TCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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