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Results for "CHD4"

Variant Events: 25

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
CHD4     36082chr12:
6687251-6687251
CTexonicDe novosynonymous SNVNM_001297553
NM_001273
c.G5151A
c.G5172A
p.K1717K
p.K1724K
--Fu2022 E
Trost2022 G
CHD4     11540-1chr12:
6702267-6702267
TCexonicDe novononsynonymous SNVNM_001297553
NM_001273
c.A2621G
c.A2642G
p.N874S
p.N881S
22.1-Fu2022 E
CHD4     SSC04757chr12:
6715436-6715436
TCintronicDe novo--Fu2022 E
Trost2022 G
CHD4     08C71265chr12:
6687244-6687244
CAexonicDe novostopgainNM_001297553
NM_001273
c.G5158T
c.G5179T
p.E1720X
p.E1727X
47.0-Fu2022 E
CHD4     AU0636303chr12:
6693739-6693739
GAintronicDe novo--Trost2022 G
Yuen2017 G
CHD4     mAGRE1573chr12:
6711633-6711633
GCexonicMaternalstopgainNM_001297553
NM_001273
c.C131G
c.C131G
p.S44X
p.S44X
24.5-Cirnigliaro2023 G
CHD4     mAGRE1571chr12:
6711633-6711633
GCexonicMaternalstopgainNM_001297553
NM_001273
c.C131G
c.C131G
p.S44X
p.S44X
24.5-Cirnigliaro2023 G
CHD4     AU4122301chr12:
6705537-6705537
CTintronicDe novo--Trost2022 G
Yuen2017 G
CHD4     iHART1571chr12:
6711633-6711633
GCexonicMaternalstopgainNM_001297553
NM_001273
c.C131G
c.C131G
p.S44X
p.S44X
24.5-Ruzzo2019 G
CHD4     iHART1573chr12:
6711633-6711633
GCexonicMaternalstopgainNM_001297553
NM_001273
c.C131G
c.C131G
p.S44X
p.S44X
24.5-Ruzzo2019 G
CHD4     Lim2017:36082chr12:
6687251-6687251
CTexonicDe novosynonymous SNVNM_001297553
NM_001273
c.G5151A
c.G5172A
p.K1717K
p.K1724K
--Lim2017 E
CHD4     12297.p1chr12:
6710567-6710567
CTexonicMosaicsynonymous SNVNM_001297553
NM_001273
c.G666A
c.G687A
p.A222A
p.A229A
-2.0E-4Krupp2017 E
CHD4     11905.p1chr12:
6702647-6702647
GTexonicMosaicsynonymous SNVNM_001297553
NM_001273
c.C2428A
c.C2449A
p.R810R
p.R817R
--Dou2017 E
CHD4     SSC09521chr12:
6702297-6702297
AGexonicDe novononsynonymous SNVNM_001297553
NM_001273
c.T2591C
c.T2612C
p.I864T
p.I871T
17.78-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
CHD4     12265.p1chr12:
6715436-6715436
TCintronicDe novo--Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
CHD4     215-13188-2053chr12:
6687244-6687244
CAexonicDe novostopgainNM_001297553
NM_001273
c.G5158T
c.G5179T
p.E1720X
p.E1727X
47.0-Stessman2017 T
Stessman2017 T
CHD4     14301.p1chr12:
6687251-6687251
CTexonicDe novosynonymous SNVNM_001297553
NM_001273
c.G5151A
c.G5172A
p.K1717K
p.K1724K
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
CHD4     13829.p1chr12:
6702297-6702297
AGexonicDe novononsynonymous SNVNM_001297553
NM_001273
c.T2591C
c.T2612C
p.I864T
p.I871T
17.78-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
CHD4     215-13237-2633chr12:
6690209-6690209
CTsplicingPaternalsplicing15.85-Stessman2017 T
CHD4     1-0358-003chr12:
6705822-6705822
CGintronicDe novo--Yuen2017 G
CHD4     09C80082chr12:
6711109-6711109
GTintronicDe novo--Satterstrom2020 E
Trost2022 G
CHD4     SP0098888chr12:
6690298-6690298
GCexonicDe novosynonymous SNVNM_001297553
NM_001273
c.C4800G
c.C4821G
p.V1600V
p.V1607V
-1.647E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CHD4     SP0081465chr12:
6696681-6696681
CTexonicDe novononsynonymous SNVNM_001297553
NM_001273
c.G3727A
c.G3748A
p.D1243N
p.D1250N
22.9-Fu2022 E
Trost2022 G
Zhou2022 GE
CHD4     SP0091415chr12:
6709858-6709858
GAintronicDe novo--Fu2022 E
Trost2022 G
CHD4     2-1357-004chr12:
6724645-6724645
GCintergenicDe 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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