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Results for "DCX"

Variant Events: 7

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
DCX     AU1261301chrX:
110653469-110653469
TCexonicUnknownnonsynonymous SNVNM_000555
NM_001195553
NM_178151
NM_178152
NM_178153
c.A401G
c.A158G
c.A158G
c.A158G
c.A158G
p.K134R
p.K53R
p.K53R
p.K53R
p.K53R
16.25-Chahrour2012 E
DCX     5-0050-004chrX:
110598458-110598458
GAintronicDe novo--Yuen2017 G
DCX     07C64767chrX:
110644366-110644366
CAexonicInheritednonsynonymous SNVNM_000555
NM_001195553
NM_178151
NM_178152
NM_178153
c.G800T
c.G557T
c.G557T
c.G557T
c.G557T
p.R267L
p.R186L
p.R186L
p.R186L
p.R186L
33.0-Stessman2017 T
DCX     2-0022-004chrX:
110710376-110710376
GTintergenicDe novo--Yuen2017 G
DCX     AU030104chrX:
110559321-110559321
ATintronicDe novo--Yuen2017 G
DCX     2-1329-003chrX:
110721103-110721104
ATAintergenicDe novo--Yuen2017 G
DCX     215-13041-0503chrX:
110653511-110653511
CTexonicInheritednonsynonymous SNVNM_000555
NM_001195553
NM_178151
NM_178152
NM_178153
c.G359A
c.G116A
c.G116A
c.G116A
c.G116A
p.R120Q
p.R39Q
p.R39Q
p.R39Q
p.R39Q
35.0-Stessman2017 T
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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