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Results for "ZNF486"

Variant Events: 11

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
ZNF486     1-0169-003chr19:
20499898-20499898
TAintergenicDe novo--Yuen2017 G
ZNF486     1-0338-005chr19:
20453353-20453353
GCintergenicDe novo--Yuen2017 G
ZNF486     AU4264302chr19:
20408124-20408124
TAintergenicDe novo--Yuen2017 G
ZNF486     AU2109302chr19:
20384047-20384049
TCCTCCCintergenicDe novo--Yuen2017 G
ZNF486     13769.p1 Complex Event; expand row to view variants  De novononframeshift deletion, nonsynonymous SNV, nonframeshift substitutionNM_052852
NM_052852
NM_052852
c.173_175del
c.172_175T
c.C175T
p.58_59del
N/A
p.P59S
8.813-Ji2016 E
Krumm2015 E
Krupp2017 E
ZNF486     1-0048-003chr19:
20294103-20294103
GAintronicDe novo--Yuen2017 G
ZNF486     AU073006chr19:
20347953-20347954
TATAAintergenicDe novo--Yuen2017 G
ZNF486     5-0105-003chr19:
20497841-20497841
GAintergenicDe novo--Yuen2017 G
ZNF486     AU3692301chr19:
20486002-20486002
TCintergenicDe novo--Yuen2017 G
ZNF486     1-0271-003chr19:
20471023-20471023
TCintergenicDe novo--Yuen2017 G
ZNF486     AU075207chr19:
20293184-20293184
TAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

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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