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Results for "ZNF74"

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
ZNF74     SP0018718chr22:
20749663-20749663
TAexonicMosaic, De novononsynonymous SNVNM_003426
NM_001256524
c.T75A
c.T75A
p.N25K
p.N25K
14.77-Feliciano2019 E
Feliciano2019 E
ZNF74     156-3925chr22:
20761112-20761112
TAexonicInheritednonsynonymous SNVNM_001256525
NM_003426
NM_001256524
c.T1576A
c.T1789A
c.T1789A
p.Y526N
p.Y597N
p.Y597N
12.520.0035Patowary2019 E
ZNF74     AU3905302chr22:
20768137-20768137
TCintergenicDe novo--Yuen2017 G
ZNF74     3-0438-000chr22:
20771901-20771901
CTintergenicDe novo--Yuen2016 G
ZNF74     08C75317chr22:
20760862-20760862
GTexonicDe novosynonymous SNVNM_001256525
NM_003426
NM_001256524
c.G1326T
c.G1539T
c.G1539T
p.S442S
p.S513S
p.S513S
--Satterstrom2020 E
ZNF74     658-05-104770chr22:
20761174-20761174
CTexonicDe novosynonymous SNVNM_001256525
NM_003426
NM_001256524
c.C1638T
c.C1851T
c.C1851T
p.D546D
p.D617D
p.D617D
-5.0E-5Satterstrom2020 E
Source Variant Information

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Paper alias:

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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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