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Results for "ZNF426"

Variant Events: 9

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
ZNF426     iHART1894chr19:
9639655-9639655
GAexonicPaternalstopgainNM_001300883
NM_024106
c.C952T
c.C1066T
p.R318X
p.R356X
32.01.649E-5Ruzzo2019 G
ZNF426     iHART3005chr19:
9639403-9639403
GAexonicPaternalstopgainNM_001300883
NM_024106
c.C1204T
c.C1318T
p.R402X
p.R440X
38.04.943E-5Ruzzo2019 G
ZNF426     iHART2977chr19:
9639292-9639294
CATCexonicMaternalframeshift deletionNM_001300883
NM_024106
c.1313_1314del
c.1427_1428del
p.Y438fs
p.Y476fs
-4.119E-5Ruzzo2019 G
ZNF426     iHART3004chr19:
9639403-9639403
GAexonicPaternalstopgainNM_001300883
NM_024106
c.C1204T
c.C1318T
p.R402X
p.R440X
38.04.943E-5Ruzzo2019 G
ZNF426     AU3905302chr19:
9666136-9666136
CTintergenicDe novo--Yuen2017 G
ZNF426     iHART3007chr19:
9639403-9639403
GAexonicPaternalstopgainNM_001300883
NM_024106
c.C1204T
c.C1318T
p.R402X
p.R440X
38.04.943E-5Ruzzo2019 G
ZNF426     JASD_Fam0053chr19:
9640036-9640036
AGexonicDe novononsynonymous SNVNM_001300883
NM_024106
c.T571C
c.T685C
p.C191R
p.C229R
10.77-Takata2018 E
ZNF426     2-0272-004chr19:
9667139-9667139
TAintergenicDe novo--Yuen2017 G
ZNF426     iHART2978chr19:
9639292-9639294
CATCexonicMaternalframeshift deletionNM_001300883
NM_024106
c.1313_1314del
c.1427_1428del
p.Y438fs
p.Y476fs
-4.119E-5Ruzzo2019 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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