or
or
Exact

Results for "ZNF208"

Variant Events: 6

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
ZNF208     08C74853chr19:
22155291-22155291
TAexonicDe novononsynonymous SNVNM_007153c.A2545Tp.T849S5.9138.496E-6Satterstrom2020 E
ZNF208     09C98400chr19:
22154342-22154426
ACAGTATGAATTTTCTTATGATAACTAAGGGTTGAGGACCACTTATAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCAexonicDe novononframeshift deletionNM_007153c.3410_3493delp.1137_1165del--Satterstrom2020 E
ZNF208     Cukier2014:17351chr19:
22154331-22154331
AGexonicUnknownnonsynonymous SNVNM_007153c.T3505Cp.Y1169H14.227.0E-4Cukier2014 E
ZNF208     Cukier2014:17351chr19:
22155362-22155362
GCexonicUnknownnonsynonymous SNVNM_007153c.C2474Gp.A825G7.4757.0E-4Cukier2014 E
ZNF208     1-1004-003chr19:
22164236-22164236
CTintronicDe novo--Yuen2017 G
ZNF208     1-0279-004chr19:
22154951-22154951
TCexonicDe novononsynonymous SNVNM_007153c.A2885Gp.Y962C5.338.466E-6Yuen2015 G
Yuen2017 G
Source Variant Information

, -

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
More