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Results for "CHD7"

Variant Events: 46

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
CHD7     SP0102165chr8:
61773562-61773562
CTexonicDe novononsynonymous SNVNM_017780c.C7708Tp.P2570S15.868.282E-6Fu2022 E
CHD7     SP0124074chr8:
61742998-61742998
CGexonicDe novononsynonymous SNVNM_017780c.C3640Gp.Q1214E27.5-Fu2022 E
CHD7     Disecmas_129Pchr8:
61654835-61654835
CTexonicDe novostopgainNM_001316690
NM_017780
c.C844T
c.C844T
p.Q282X
p.Q282X
40.0-Fu2022 E
CHD7     SP0040884chr8:
61778190-61778190
AGexonicDe novononsynonymous SNVNM_001316690
NM_017780
c.A2545G
c.A8692G
p.M849V
p.M2898V
6.4091.666E-5Fu2022 E
CHD7     SP0028894chr8:
61777824-61777824
CTexonicDe novononsynonymous SNVNM_001316690
NM_017780
c.C2179T
c.C8326T
p.P727S
p.P2776S
29.81.103E-5Fu2022 E
CHD7     AU2433302chr8:
61822776-61822776
CGintergenicDe novo--Yuen2017 G
CHD7     GX0364.p1chr8:
61769032-61769032
GAexonicPaternalnonsynonymous SNVNM_017780c.G7193Ap.R2398H34.02.867E-5Guo2018 T
CHD7     1-0269-003chr8:
61804512-61804512
AGintergenicDe novo--Yuen2017 G
CHD7     2-0028-003chr8:
61676122-61676122
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CHD7     SP0106388chr8:
61757622-61757622
GAexonicDe novononsynonymous SNVNM_017780c.G5050Ap.G1684S28.8-Fu2022 E
CHD7     1-0520-003chr8:
61850984-61850984
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CHD7     AU4235303chr8:
61642684-61642684
TAintronicDe novo--Yuen2017 G
CHD7     13704.p1chr8:
61777890-61777891
CTCexonicMaternalframeshift deletionNM_001316690
NM_017780
c.2246delT
c.8393delT
p.L749fs
p.L2798fs
--O’Roak2012a T
CHD7     13733.p1chr8:
61735090-61735090
GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
CHD7     14023.p1chr8:
61778440-61778440
TTAexonicPaternalframeshift insertionNM_001316690
NM_017780
c.2796dupA
c.8943dupA
p.L932fs
p.L2981fs
--O’Roak2012a T
CHD7     A1338Bchr8:
61749449-61749449
CGexonicDe novononsynonymous SNVNM_017780c.C4063Gp.P1355A25.6-Fu2022 E
CHD7     SP0037048chr8:
61732663-61732663
ACintronicDe novo--Fu2022 E
CHD7     4916chr8:
61735090-61735090
GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Fu2022 E
CHD7     SP0121865chr8:
61655635-61655635
GAexonicDe novosynonymous SNVNM_001316690
NM_017780
c.G1644A
c.G1644A
p.P548P
p.P548P
-2.618E-5Fu2022 E
CHD7     1-0180-004chr8:
61852490-61852490
AGintergenicDe novo--Yuen2017 G
CHD7     2-1138-003chr8:
61784250-61784250
GCintergenicDe novo--Yuen2017 G
CHD7     SP0006667chr8:
61655254-61655254
AGexonicDe novosynonymous SNVNM_001316690
NM_017780
c.A1263G
c.A1263G
p.P421P
p.P421P
-2.499E-5Feliciano2019 E
Fu2022 E
CHD7     1-0558-003chr8:
61726302-61726302
CGintronicDe novo--Yuen2017 G
CHD7     1-0142-005chr8:
61645915-61645915
AGintronicDe novo--Yuen2017 G
CHD7     2-1407-003chr8:
61837775-61837775
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CHD7     1-0358-003chr8:
61865409-61865409
CAintergenicDe novo--Yuen2017 G
CHD7     M27795chr8:
61750797-61750797
GAexonicPaternalnonsynonymous SNVNM_017780c.G4516Ap.G1506S34.06.64E-5Wang2016 T
CHD7     2-1272-003chr8:
61742924-61742924
GAexonicInheritednonsynonymous SNVNM_017780c.G3566Ap.R1189H33.0-Jiang2013 G
CHD7     AU009805chr8:
61781818-61781818
TCintergenicDe novo--Yuen2017 G
CHD7     M31977chr8:
61769341-61769341
CAexonicUnknownnonsynonymous SNVNM_017780c.C7502Ap.S2501Y31.0-Guo2018 T
CHD7     1-0246-005chr8:
61811010-61811010
GAintergenicDe novo--Yuen2017 G
CHD7     JASD_Fam0001chr8:
61774804-61774804
GAexonicDe novononsynonymous SNVNM_001316690
NM_017780
c.G1733A
c.G7880A
p.R578Q
p.R2627Q
36.0-Takata2018 E
CHD7     1-0209-003chr8:
61769255-61769265
ACCAGTGTCTGAexonicDe novoframeshift deletionNM_017780c.7417_7426delp.P2473fs--Yuen2017 G
CHD7     Lim2017:4916chr8:
61735090-61735090
GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Lim2017 E
CHD7     2-1207-003chr8:
61691913-61691913
AGintronicDe novo--Yuen2017 G
CHD7     Yalcintepe2021:12chr8:
61654404-61654404
TCexonicnonsynonymous SNVNM_001316690
NM_017780
c.T413C
c.T413C
p.F138S
p.F138S
13.98-Yalcintepe2021 T
CHD7     211-5569-3chr8:
61742924-61742924
GAexonicInheritednonsynonymous SNVNM_017780c.G3566Ap.R1189H33.0-Stessman2017 T
CHD7     1-0079-008chr8:
61823454-61823454
TTCintergenicDe novo--Yuen2017 G
CHD7     AU006804chr8:
61748401-61748401
GAintronicDe novo--Yuen2017 G
CHD7     AU2835301chr8:
61765088-61765088
CTexonicUnknownnonsynonymous SNVNM_017780c.C5926Tp.R1976C27.4-Stessman2017 T
CHD7     M21675chr8:
61750797-61750797
GAexonicMaternalnonsynonymous SNVNM_017780c.G4516Ap.G1506S34.06.64E-5Wang2016 T
CHD7     U5B9Hchr8:
61748841-61748841
CTexonicUnknownnonsynonymous SNVNM_017780c.C3988Tp.R1330W22.01.0E-4Stessman2017 T
CHD7     08C73987chr8:
61768504-61768504
ACintronicDe novo--Satterstrom2020 E
CHD7     Yalcintepe2021:13chr8:
61655415-61655415
TAexonicnonsynonymous SNVNM_001316690
NM_017780
c.T1424A
c.T1424A
p.M475K
p.M475K
17.35-Yalcintepe2021 T
CHD7     U3Q8Vchr8:
61655553-61655553
CTexonicUnknownnonsynonymous SNVNM_001316690
NM_017780
c.C1562T
c.C1562T
p.P521L
p.P521L
23.62.533E-5Stessman2017 T
CHD7     Hu2022:70chr8:
61654295-61654295
CTexonicPaternalnonsynonymous SNVNM_001316690
NM_017780
c.C304T
c.C304T
p.H102Y
p.H102Y
15.41-Hu2022 T
Source Variant Information

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Source:

Paper alias:

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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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