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Results for "CHD5"

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
CHD5     DEASD_0125_001chr1:
6191718-6191718
GAexonicDe novononsynonymous SNVNM_015557c.C3235Tp.R1079W15.44-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CHD5     2-1140-003chr1:
6204581-6204581
CAintronicDe novo--Yuen2017 G
CHD5     JASD_Fam0207chr1:
6202253-6202253
GTexonicDe novosynonymous SNVNM_015557c.C2371Ap.R791R--Takata2018 E
CHD5     AU3881301chr1:
6197993-6197993
CTintronicDe novo--Yuen2017 G
CHD5     iHART2831chr1:
6166453-6166453
AGsplicingMaternalsplicing21.9-Ruzzo2019 G
CHD5     2-1355-003chr1:
6235028-6235028
AGintronicDe novo--Yuen2017 G
CHD5     5-0114-003chr1:
6177782-6177782
CGintronicDe novo--Yuen2017 G
CHD5     2-1581-003chr1:
6175086-6175086
GAintronicDe novo--Yuen2017 G
CHD5     AU0039303chr1:
6242091-6242091
TCintergenicDe novo--Yuen2017 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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