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Results for "ZNF860"

Variant Events: 9

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
ZNF860     3-0307-000chr3:
32106573-32106573
CTintergenicDe novo--Yuen2017 G
ZNF860     AU2988302chr3:
32027877-32027877
GCintronicDe novo--Yuen2017 G
ZNF860     AU4359301chr3:
32055772-32055772
GAintergenicDe novo--Yuen2017 G
ZNF860     SSC07586chr3:
32030783-32030783
TCexonicDe novononsynonymous SNVNM_001137674c.T212Cp.M71T0.856-Lim2017 E
ZNF860     AU074403chr3:
32070112-32070112
TCintergenicDe novo--Yuen2017 G
ZNF860     AU2988303chr3:
32027877-32027877
GCintronicDe novo--Yuen2017 G
ZNF860     12055.p1chr3:
32030783-32030783
TCexonicDe novononsynonymous SNVNM_001137674c.T212Cp.M71T0.856-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ZNF860     A17chr3:
32030579-32030580
GTGexonicDe novoframeshift deletionNM_001137674c.9delTp.R3fs-0.0013Wu2018 G
ZNF860     A7chr3:
32030579-32030580
GTGexonicDe novoframeshift deletionNM_001137674c.9delTp.R3fs-0.0013Wu2018 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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