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Results for "ZNF76"

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
ZNF76     iHART1876chr6:
35261585-35261585
CTexonicPaternalstopgainNM_003427c.C1387Tp.Q463X40.0-Ruzzo2019 G
ZNF76     2-0158-003chr6:
35245790-35245790
CGintronicDe novo--Yuen2017 G
ZNF76     iHART2001chr6:
35255421-35255421
ACsplicingMaternalsplicing12.378.717E-6Ruzzo2019 G
ZNF76     13195.p1chr6:
35259344-35259344
CTexonicDe novononsynonymous SNVNM_001292032
NM_003427
c.C761T
c.C761T
p.P254L
p.P254L
27.08.255E-6Ji2016 E
Krumm2015 E
ZNF76     AU194Achr6:
35259464-35259464
GAexonicDe novononsynonymous SNVNM_001292032
NM_003427
c.G881A
c.G881A
p.R294H
p.R294H
35.08.274E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ZNF76     iHART1875chr6:
35261585-35261585
CTexonicPaternalstopgainNM_003427c.C1387Tp.Q463X40.0-Ruzzo2019 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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