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Results for "C10orf53"

Variant Events: 5

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
C10orf53     1-0511-003chr10:
50923813-50923813
GCintergenicDe novo--Yuen2017 G
C10orf53     AU3695303chr10:
50910582-50910582
GAintronicDe novo--Yuen2017 G
C10orf53     11108.p1chr10:
50887799-50887799
TCexonicDe novononsynonymous SNVNM_001042427
NM_182554
c.T56C
c.T56C
p.L19P
p.L19P
18.23-Ji2016 E
Krumm2015 E
Satterstrom2020 E
C10orf53     SSC00803chr10:
50887799-50887799
TCexonicDe novononsynonymous SNVNM_001042427
NM_182554
c.T56C
c.T56C
p.L19P
p.L19P
18.23-Lim2017 E
C10orf53     AU2293301chr10:
50902794-50902794
CTUTR3De 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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