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Results for "ZNF213"

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
ZNF213     2-0126-004chr16:
3187462-3187463
GAGexonicDe novoframeshift deletionNM_001134655
NM_004220
c.182delA
c.182delA
p.E61fs
p.E61fs
--Trost2022 G
Yuen2015 G
ZNF213     12536.p1chr16:
3190740-3190740
CGexonicDe novononsynonymous SNVNM_001134655
NM_004220
c.C772G
c.C772G
p.P258A
p.P258A
6.475-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ZNF213     SP0099425chr16:
3191062-3191062
GTexonicDe novononsynonymous SNVNM_001134655
NM_004220
c.G1094T
c.G1094T
p.G365V
p.G365V
12.54-Fu2022 E
Trost2022 G
Zhou2022 GE
ZNF213     12536_p1chr16:
3190740-3190740
CGexonicDe novononsynonymous SNVNM_001134655
NM_004220
c.C772G
c.C772G
p.P258A
p.P258A
6.475-Fu2022 E
ZNF213     SP0145834chr16:
3188332-3188332
CTintronicDe novo--Fu2022 E
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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