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Results for "GJB6"

Variant Events: 11

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
GJB6     SJD_49chr13:
20796930-20796930
AATexonicMaternalframeshift insertionNM_001110221
NM_006783
NM_001110220
NM_001110219
c.689dupA
c.689dupA
c.689dupA
c.689dupA
p.N230fs
p.N230fs
p.N230fs
p.N230fs
-3.0E-4Toma2013 E
GJB6     1-0533-003chr13:
20831340-20831340
GAintergenicDe novo--Yuen2017 G
GJB6     1-0380-003chr13:
20929141-20929141
GTintergenicDe novo--Yuen2017 G
GJB6     1-0446-003chr13:
20802632-20802632
GGTintronicDe novo--Yuen2017 G
GJB6     A7chr13:
20800993-20800993
CGintronicDe novo--Wu2018 G
GJB6     2-1246-003chr13:
20814272-20814272
AGintergenicDe novo--Yuen2017 G
GJB6     AU1955302chr13:
20893236-20893236
TCintergenicDe novo--Yuen2017 G
GJB6     1-0367-003chr13:
20865752-20865752
CTintergenicDe novo--Yuen2017 G
GJB6     1-0413-003chr13:
20843280-20843280
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
GJB6     A21chr13:
20893618-20893618
GTintergenicDe novo--Wu2018 G
GJB6     AU4315302chr13:
20862439-20862439
GAintergenicDe 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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