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Results for "CHD1"

Variant Events: 22

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
CHD1     PN400132chr5:
98228403-98228403
TAexonicUnknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
CHD1     PN400455chr5:
98228403-98228403
TAexonicUnknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
CHD1     PN400486chr5:
98228403-98228403
TAexonicUnknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
CHD1     Stessman2017:ASD_1168chr5:
98217827-98217827
CAexonicUnknownnonsynonymous SNVNM_001270c.G2719Tp.V907L29.5-Stessman2017 T
CHD1     215-13004-0053chr5:
98208223-98208223
CTexonicDe novononsynonymous SNVNM_001270c.G3608Ap.R1203Q33.0-O’Roak2014 T
CHD1     PN400230chr5:
98228403-98228403
TAexonicUnknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
CHD1     PN400231chr5:
98228403-98228403
TAexonicInherited, Unknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
Leblond2019 E
CHD1     PN400579chr5:
98228403-98228403
TAexonicUnknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
CHD1     10C105228chr5:
98216794-98216794
GCexonicDe novononsynonymous SNVNM_001270c.C3046Gp.L1016V23.8-DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
CHD1     08C79232chr5:
98235279-98235279
GAexonicDe novosynonymous SNVNM_001270c.C990Tp.N330N--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CHD1     07C65183chr5:
98212154-98212154
GAexonicUnknownnonsynonymous SNVNM_001270c.C3346Tp.R1116W17.49-Stessman2017 T
CHD1     2-1736-003chr5:
98241545-98241545
GAintronicDe novo--Yuen2017 G
CHD1     11664.p1chr5:
98233929-98233929
TGintronicDe novo--Satterstrom2020 E
CHD1     14559.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001270
NM_001270
c.4550dupT
c.4549dupT
p.L1517fs
p.L1517fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
CHD1     AU2951303chr5:
98242264-98242264
GAintronicDe novo--Yuen2017 G
CHD1     AU4467302chr5:
98220434-98220434
TGintronicDe novo--Yuen2017 G
CHD1     Mahjani2021:15chr5:
98228252-98228252
ATexonicnonsynonymous SNVNM_001270c.T2157Ap.S719R19.46-Mahjani2021 E
CHD1     14028.p1chr5:
98239610-98239610
AGexonicDe novosynonymous SNVNM_001270c.T258Cp.F86F--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CHD1     PN400582chr5:
98228403-98228403
TAexonicUnknownnonsynonymous SNVNM_001270c.A2006Tp.E669V24.10.0083Leblond2019 E
CHD1     AU2951302chr5:
98242264-98242264
GAintronicDe novo--Yuen2017 G
CHD1     1-0175-004chr5:
98203478-98203478
TCintronicDe novo--Yuen2017 G
CHD1     08C74195chr5:
98218952-98218952
TCintronicDe novo--Satterstrom2020 E
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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