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Results for "ZNF266"

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
ZNF266     2-1620-004chr19:
9514845-9514845
TTGGGAintergenicDe novo--Yuen2017 G
ZNF266     1-0278-003chr19:
9504477-9504477
AGintergenicDe novo--Yuen2016 G
ZNF266     Cukier2014:7590chr19:
9524715-9524715
AGexonicUnknownnonsynonymous SNVNM_001271314
NM_006631
c.T886C
c.T886C
p.Y296H
p.Y296H
12.420.0099Cukier2014 E
ZNF266     2-1425-004chr19:
9528714-9528714
CTintronicDe novo--Yuen2017 G
ZNF266     2-0285-003chr19:
9524440-9524440
CTexonicDe novosynonymous SNVNM_001271314
NM_006631
c.G1161A
c.G1161A
p.K387K
p.K387K
--Yuen2015 G
Yuen2017 G
ZNF266     2-1343-003chr19:
9546938-9546938
GAupstreamDe novo--Yuen2016 G
Yuen2017 G
ZNF266     AU3874303chr19:
9535455-9535455
TCintronicDe 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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