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Results for "C8orf86"

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
C8orf86     AU3849302chr8:
38393832-38393832
AGintergenicDe novo--Yuen2017 G
C8orf86     2-1212-003chr8:
38368226-38368226
ACdownstreamDe novo--Yuen2017 G
C8orf86     AU4479301chr8:
38448851-38448851
AGintergenicDe novo--Yuen2017 G
C8orf86     1-0486-003chr8:
38416099-38416099
CTintergenicDe novo--Yuen2017 G
C8orf86     AU3858302chr8:
38369308-38369308
CTUTR3De novo--Yuen2017 G
C8orf86     A17chr8:
38397476-38397476
TCintergenicDe novo--Wu2018 G
C8orf86     2-1702-004chr8:
38387611-38387611
CTintergenicDe novo--Yuen2017 G
C8orf86     AU2427301chr8:
38387525-38387525
GTintergenicDe novo--Yuen2017 G
C8orf86     AU2108302chr8:
38443505-38443505
GTintergenicDe novo--Yuen2017 G
C8orf86     1-0973-003chr8:
38443095-38443095
GTintergenicDe 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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