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Results for "ZNF534"

Variant Events: 13

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
ZNF534     1-0486-003chr19:
52953268-52953268
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZNF534     mAGRE5746chr19:
52942664-52942664
CTexonicPaternalstopgainNM_001143938
NM_001143939
c.C1951T
c.C1990T
p.Q651X
p.Q664X
12.03-Cirnigliaro2023 G
ZNF534     Shi2013:2chr19:
52938462-52938462
GAexonicInheritednonsynonymous SNVNM_001143938
NM_001143939
NM_001291368
c.G271A
c.G310A
c.G271A
p.E91K
p.E104K
p.D91N
3.053-Shi2013 G
ZNF534     mAGRE5500chr19:
52941445-52941445
TGexonicMaternalstopgainNM_001143938
NM_001143939
c.T732G
c.T771G
p.Y244X
p.Y257X
13.64-Cirnigliaro2023 G
ZNF534     mAGRE2351chr19:
52941215-52941216
CTCexonicMaternalframeshift deletionNM_001143938
NM_001143939
c.503delT
c.542delT
p.L168fs
p.L181fs
-8.37E-6Cirnigliaro2023 G
ZNF534     mAGRE2350chr19:
52941215-52941216
CTCexonicMaternalframeshift deletionNM_001143938
NM_001143939
c.503delT
c.542delT
p.L168fs
p.L181fs
-8.37E-6Cirnigliaro2023 G
ZNF534     Shi2013:1chr19:
52938462-52938462
GAexonicInheritednonsynonymous SNVNM_001143938
NM_001143939
NM_001291368
c.G271A
c.G310A
c.G271A
p.E91K
p.E104K
p.D91N
3.053-Shi2013 G
ZNF534     7-0100-003chr19:
52955821-52955823
CAGTdownstreamDe novo--Trost2022 G
ZNF534     7-0100-003chr19:
52955814-52955816
CCATTGdownstreamDe novo--Trost2022 G
ZNF534     7-0100-003chr19:
52955808-52955810
CAAAATdownstreamDe novo--Trost2022 G
ZNF534     7-0334-003chr19:
52951698-52951698
CTintronicDe novo--Trost2022 G
ZNF534     iHART2351chr19:
52941215-52941216
CTCexonicMaternalframeshift deletionNM_001143938
NM_001143939
c.503delT
c.542delT
p.L168fs
p.L181fs
-8.37E-6Ruzzo2019 G
ZNF534     iHART2350chr19:
52941215-52941216
CTCexonicMaternalframeshift deletionNM_001143938
NM_001143939
c.503delT
c.542delT
p.L168fs
p.L181fs
-8.37E-6Ruzzo2019 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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