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Results for "ZFX"

Variant Events: 4

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
ZFX     AU056804chrX:
24279930-24279933
CTTTCTTTTintergenicDe novo--Yuen2017 G
ZFX     AU035204chrX:
24197488-24197488
GCexonicUnknownnonsynonymous SNVNM_001178084
NM_001178095
NM_003410
NM_001178085
c.G247C
c.G247C
c.G247C
c.G247C
p.E83Q
p.E83Q
p.E83Q
p.E83Q
18.082.0E-4Chahrour2012 E
ZFX     AU021204chrX:
24327796-24327833
AAAAAAAAAAAATTAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAintergenicDe novo--Yuen2017 G
ZFX     iHART2376chrX:
24170835-24170835
AGsplicingMaternalsplicing--Ruzzo2019 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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