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Results for "ZNF445"

Variant Events: 8

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
ZNF445     1-0044-003chr3:
44506130-44506134
GTTTCGintronicDe novo--Yuen2017 G
ZNF445     PN400575chr3:
44489485-44489485
GAexonicUnknownstopgainNM_181489c.C1678Tp.R560X39.0-Leblond2019 E
ZNF445     PN400576chr3:
44489485-44489485
GAexonicUnknownstopgainNM_181489c.C1678Tp.R560X39.0-Leblond2019 E
ZNF445     SSC05973chr3:
44488908-44488908
GAexonicDe novononsynonymous SNVNM_181489c.C2255Tp.P752L15.78-Lim2017 E
ZNF445     2-1279-003chr3:
44499585-44499585
GCintronicDe novo--Yuen2016 G
Yuen2017 G
ZNF445     2-0238-004chr3:
44521591-44521591
GTintergenicDe novo--Yuen2017 G
ZNF445     12891.p1chr3:
44488908-44488908
GAexonicDe novononsynonymous SNVNM_181489c.C2255Tp.P752L15.78-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ZNF445     08C79336chr3:
44488106-44488106
CGexonicDe novosynonymous SNVNM_181489c.G3057Cp.S1019S--DeRubeis2014 E
Kosmicki2017 E
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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