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Results for "ZNF451"

Variant Events: 10

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
ZNF451     MSSNG00334-004chr6:
56964386-56964386
AGintronicDe novo--Trost2022 G
ZNF451     SP0183815chr6:
56969411-56969412
GAGUTR3De novo--Trost2022 G
ZNF451     MSSNG00037-004Achr6:
56962214-56962214
TCintronicDe novo--Trost2022 G
ZNF451     SP0122263chr6:
56966656-56966656
GAexonicDe novononsynonymous SNVNM_001257273c.G1442Ap.G481D16.31-Fu2022 E
Zhou2022 GE
ZNF451     SP0077795chr6:
56972430-56972430
GAUTR3De novo--Fu2022 E
Trost2022 G
ZNF451     SP0092898chr6:
56968392-56968392
TGUTR3De novo--Fu2022 E
Trost2022 G
ZNF451     09C90833chr6:
57017096-57017096
CTexonicDe novononsynonymous SNVNM_015555
NM_001031623
c.C2686T
c.C2830T
p.H896Y
p.H944Y
25.7-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ZNF451     CC1370_203chr6:
56966754-56966754
CTexonicDe novostopgainNM_001257273c.C1540Tp.R514X37.0-Fu2022 E
ZNF451     mAGRE5382chr6:
56993527-56993527
GGAexonicMaternalframeshift insertionNM_001031623
NM_015555
c.314dupA
c.314dupA
p.E105fs
p.E105fs
--Cirnigliaro2023 G
ZNF451     1-1121-003chr6:
56978587-56978587
TCintronicDe novo--Trost2022 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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