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Results for "CHD2"

Variant Events: 85

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
CHD2     13073.p1chr15:
93467760-93467760
AGexonicMosaicnonsynonymous SNVNM_001042572
NM_001271
c.A272G
c.A272G
p.E91G
p.E91G
16.16-Krupp2017 E
CHD2     M18930chr15:
93543766-93543766
CTexonicUnknown, Paternalnonsynonymous SNVNM_001271c.C4033Tp.R1345W25.3-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
CHD2     09C80382chr15:
93521585-93521585
GAexonicDe novononsynonymous SNVNM_001271c.G2699Ap.R900Q36.0-Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
CHD2     Stessman2017:ASD_1285chr15:
93482923-93482923
CTexonicUnknownnonsynonymous SNVNM_001042572
NM_001271
c.C667T
c.C667T
p.R223C
p.R223C
24.52.474E-5Stessman2017 T
CHD2     M30934chr15:
93527730-93527730
GTexonicDe novononsynonymous SNVNM_001271c.G3237Tp.K1079N17.81-Guo2018 T
CHD2     226-09-111366chr15:
93521659-93521659
AGintronicDe novo--Satterstrom2020 E
CHD2     M20277chr15:
93482850-93482850
GCexonicMaternalnonsynonymous SNVNM_001042572
NM_001271
c.G594C
c.G594C
p.Q198H
p.Q198H
17.514.943E-5Guo2018 T
Wang2016 T
CHD2     M20684chr15:
93496650-93496650
CGexonicMaternalnonsynonymous SNVNM_001271c.C1566Gp.F522L16.3-Guo2018 T
Wang2016 T
CHD2     M12327chr15:
93467570-93467570
GAexonicUnknown, Maternalnonsynonymous SNVNM_001042572
NM_001271
c.G82A
c.G82A
p.A28T
p.A28T
17.06-Guo2018 T
Wang2016 T
CHD2     SSC06347chr15:
93467760-93467760
AGexonicMosaicnonsynonymous SNVNM_001042572
NM_001271
c.A272G
c.A272G
p.E91G
p.E91G
16.16-Lim2017 E
CHD2     M12422chr15:
93528788-93528788
GCexonicMaternalnonsynonymous SNVNM_001271c.G3298Cp.A1100P17.644.124E-5Wang2016 T
CHD2     215-13101-1183chr15:
93552420-93552420
GAexonicDe novononsynonymous SNVNM_001271c.G4459Ap.D1487N35.0-Stessman2017 T
CHD2     1-0221-003chr15:
93521602-93521602
CTexonicDe novostopgainNM_001271c.C2716Tp.Q906X27.2-Wang2020 T
CHD2     AU015203chr15:
93567810-93567810
CTexonicUnknownnonsynonymous SNVNM_001271c.C5362Tp.R1788C20.72.484E-5Stessman2017 T
Wang2020 T
Wang2020 T
CHD2     Husson2020:382chr15:
93486240-93486245
GTGAAGGexonicframeshift deletionNM_001042572
NM_001271
c.995_999del
c.995_999del
p.V332fs
p.V332fs
--Husson2020 E
CHD2     M17596chr15:
93486100-93486100
CTexonicPaternalnonsynonymous SNVNM_001042572
NM_001271
c.C854T
c.C854T
p.A285V
p.A285V
16.218.292E-5Guo2018 T
Wang2016 T
CHD2     M20398chr15:
93528788-93528788
GCexonicUnknownnonsynonymous SNVNM_001271c.G3298Cp.A1100P17.644.124E-5Wang2016 T
CHD2     00287-G8V4Lchr15:
93444475-93444479
GAAATGexonicUnknownframeshift deletionNM_001042572
NM_001271
c.9_12del
c.9_12del
p.R3fs
p.R3fs
--Wang2020 T
Wang2020 T
CHD2     SP0045640chr15:
93540530-93540530
GAexonicDe novostopgainNM_001271c.G3782Ap.W1261X49.0-Feliciano2019 E
CHD2     193_3_a.2.1chr15:
93489303-93489303
GAexonicUnknownnonsynonymous SNVNM_001042572
NM_001271
c.G1234A
c.G1234A
p.E412K
p.E412K
36.0-Wang2020 T
Wang2020 T
CHD2     192029chr15:
93480818-93480819
CACexonicUnknownframeshift deletionNM_001042572
NM_001271
c.515delA
c.515delA
p.Q172fs
p.Q172fs
-3.0E-4Wang2020 T
Wang2020 T
CHD2     60700775chr15:
93486180-93486180
ATexonicUnknownstopgainNM_001042572
NM_001271
c.A934T
c.A934T
p.K312X
p.K312X
46.0-Wang2020 T
Wang2020 T
CHD2     ASDchr15:
93482923-93482923
CTexonicUnknownnonsynonymous SNVNM_001042572
NM_001271
c.C667T
c.C667T
p.R223C
p.R223C
24.52.474E-5Wang2020 T
Wang2020 T
CHD2     M23690chr15:
93567783-93567783
CGexonicPaternalnonsynonymous SNVNM_001271c.C5335Gp.P1779A7.6744.14E-5Guo2018 T
Wang2016 T
CHD2     215-13023-0303chr15:
93563256-93563256
CTexonicDe novostopgainNM_001271c.C4921Tp.Q1641X49.0-O’Roak2014 T
Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
CHD2     M17542chr15:
93496635-93496635
CGexonicPaternalnonsynonymous SNVNM_001271c.C1551Gp.I517M18.34-Guo2018 T
Wang2016 T
CHD2     214-17028-1chr15:
93543758-93543758
GAexonicUnknownnonsynonymous SNVNM_001271c.G4025Ap.R1342Q35.06.664E-5Wang2020 T
CHD2     62561782chr15:
93470506-93470506
CGexonicUnknownsynonymous SNVNM_001042572
NM_001271
c.C327G
c.C327G
p.V109V
p.V109V
-8.281E-6Wang2020 T
Wang2020 T
CHD2     M13398chr15:
93528788-93528788
GCexonicPaternalnonsynonymous SNVNM_001271c.G3298Cp.A1100P17.644.124E-5Wang2016 T
CHD2     309.03chr15:
93528836-93528836
CTexonicUnknownnonsynonymous SNVNM_001271c.C3346Tp.R1116C27.48.249E-6Wang2020 T
Wang2020 T
CHD2     GX0321.p1chr15:
93482850-93482850
GCexonicPaternalnonsynonymous SNVNM_001042572
NM_001271
c.G594C
c.G594C
p.Q198H
p.Q198H
17.514.943E-5Guo2018 T
CHD2     08C73996chr15:
93552420-93552420
GAexonicDe novononsynonymous SNVNM_001271c.G4459Ap.D1487N35.0-Satterstrom2020 E
CHD2     GX0026.p1chr15:
93467733-93467733
CGexonicPaternalnonsynonymous SNVNM_001042572
NM_001271
c.C245G
c.C245G
p.A82G
p.A82G
16.738.241E-6Guo2018 T
CHD2     T3A5Lchr15:
93482851-93482851
CTexonicUnknownnonsynonymous SNVNM_001042572
NM_001271
c.C595T
c.C595T
p.R199C
p.R199C
25.12.471E-5Stessman2017 T
Wang2020 T
Wang2020 T
CHD2     GX0036.p1chr15:
93547866-93547866
AGexonicPaternalnonsynonymous SNVNM_001271c.A4298Gp.K1433R28.6-Guo2018 T
CHD2     1-0559-004chr15:
93491959-93491959
CTintronicDe novo--Yuen2017 G
CHD2     GX0393.p1chr15:
93487683-93487683
AGexonicPaternalnonsynonymous SNVNM_001042572
NM_001271
c.A1091G
c.A1091G
p.N364S
p.N364S
14.713.0E-4Guo2018 T
CHD2     Mahjani2021:75chr15:
93541780-93541780
CTexonicstopgainNM_001271c.C3937Tp.R1313X47.0-Mahjani2021 E
CHD2     2-1342-003chr15:
93570208-93570208
GAUTR3De novo--Yuen2016 G
Yuen2017 G
CHD2     M03953chr15:
93486100-93486100
CC/TexonicPaternal--Guo2018 T
CHD2     HEN0103.p1chr15:
93567807-93567807
CAexonicPaternalnonsynonymous SNVNM_001271c.C5359Ap.P1787T21.6-Guo2018 T
CHD2     GX0516.p1chr15:
93567648-93567648
CGexonicPaternalnonsynonymous SNVNM_001271c.C5200Gp.Q1734E13.71-Guo2018 T
CHD2     HEN0362.p1chr15:
93518107-93518107
AGsplicingDe novosplicing24.0-Guo2018 T
Wang2020 T
Wang2020 T
CHD2     Z2T2Mchr15:
93563464-93563464
GAexonicUnknown, Inheritednonsynonymous SNVNM_001271c.G5129Ap.R1710Q35.0-Stessman2017 T
Wang2020 T
Wang2020 T
CHD2     M15237chr15:
93540500-93540500
GAexonicPaternalnonsynonymous SNVNM_001271c.G3752Ap.R1251H14.731.648E-5Guo2018 T
Wang2016 T
CHD2     M23688chr15:
93563389-93563389
GAexonicUnknown, De novononsynonymous SNVNM_001271c.G5054Ap.R1685H36.08.24E-6Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
CHD2     2-0713-003chr15:
93552284-93552284
GAintronicDe novo--Yuen2017 G
CHD2     Yamamoto2019:3chr15:
93541774-93541774
CTexonicDe novostopgainNM_001271c.C3931Tp.Q1311X48.0-Yamamoto2019 T
CHD2     JASD_Fam0016chr15:
93510727-93510727
CTexonicDe novostopgainNM_001271c.C2173Tp.Q725X47.0-Takata2018 E
CHD2     M15107chr15:
93567680-93567680
GAexonicPaternalnonsynonymous SNVNM_001271c.G5232Ap.M1744I17.493.316E-5Wang2016 T
CHD2     JASD_Fam0011chr15:
93485051-93485051
GTsplicingDe novosplicing23.9-Takata2018 E
CHD2     M21465chr15:
93567680-93567680
GAexonicPaternalnonsynonymous SNVNM_001271c.G5232Ap.M1744I17.493.316E-5Wang2016 T
CHD2     Yamamoto2019:4chr15:
93485051-93485051
GTsplicingDe novosplicing23.9-Yamamoto2019 T
CHD2     256278 Complex Event; expand row to view variants  Unknown, Inheritedframeshift deletionNM_001042572
NM_001271
NM_001042572
NM_001271
c.1225delA
c.1225delA
c.1224delA
c.1224delA
p.N409fs
p.N409fs
p.S408fs
p.S408fs
--Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
CHD2     1-0367-003chr15:
93479148-93479148
GAintronicDe novo--Yuen2017 G
CHD2     1-0862-003chr15:
93559818-93559818
AGintronicDe novo--Yuen2017 G
CHD2     SF0001493.p1chr15:
93522377-93522377
CTexonicDe novononsynonymous SNVNM_001271c.C2740Tp.R914C32.0-Wang2020 T
CHD2     SF0103757.p1chr15:
93521588-93521588
CGexonicDe novononsynonymous SNVNM_001271c.C2702Gp.A901G32.0-Wang2020 T
CHD2     SF0045451.p1chr15:
93552516-93552516
GAexonicDe novononsynonymous SNVNM_001271c.G4555Ap.A1519T13.93-Wang2020 T
CHD2     SF0110352.p2chr15:
93486256-93486256
ACexonicDe novononsynonymous SNVNM_001042572
NM_001271
c.A1010C
c.A1010C
p.K337T
p.K337T
26.4-Wang2020 T
CHD2     MS134chr15:
93498741-93498742
AGAexonicDe novoframeshift deletionNM_001271c.1809delGp.K603fs--O’Roak2014 T
CHD2     SF0006321.p1chr15:
93486234-93486234
CTexonicDe novostopgainNM_001042572
NM_001271
c.C988T
c.C988T
p.Q330X
p.Q330X
45.0-Wang2020 T
CHD2     13614.p1chr15:
93563244-93563244
CTexonicDe novostopgainNM_001271c.C4909Tp.R1637X49.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CHD2     SF0141034.p1chr15:
93521585-93521585
GAexonicDe novononsynonymous SNVNM_001271c.G2699Ap.R900Q36.0-Wang2020 T
CHD2     13818.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001271
NM_001271
c.4948dupG
c.4948dupG
p.G1649fs
p.G1650fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
CHD2     2-1456-004chr15:
93545485-93545485
AGexonicDe novononsynonymous SNVNM_001271c.A4216Gp.S1406G10.04-Wang2020 T
Yuen2017 G
CHD2     SF0040833.p1chr15:
93489375-93489375
ATexonicDe novostopgainNM_001042572
NM_001271
c.A1306T
c.A1306T
p.K436X
p.K436X
44.0-Wang2020 T
CHD2     HN0146.p1chr15:
93499791-93499791
TCexonicMaternalnonsynonymous SNVNM_001271c.T1912Cp.S638P29.0-Guo2018 T
CHD2     13618.p1chr15:
93524060-93524064
TAAAGTexonicDe novoframeshift deletionNM_001271c.2893_2896delp.K965fs--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CHD2     AU3720302chr15:
93476721-93476721
CGintronicDe novo--Yuen2017 G
CHD2     HEN0219.p1chr15:
93555667-93555667
ACexonicMaternalnonsynonymous SNVNM_001271c.A4685Cp.E1562A20.3-Guo2018 T
CHD2     AU3632301chr15:
93524348-93524348
GTintronicDe novo--Yuen2017 G
CHD2     M20668chr15:
93567680-93567680
GAexonicMaternalnonsynonymous SNVNM_001271c.G5232Ap.M1744I17.493.316E-5Wang2016 T
CHD2     GX0276.p1chr15:
93482850-93482850
GCexonicMaternalnonsynonymous SNVNM_001042572
NM_001271
c.G594C
c.G594C
p.Q198H
p.Q198H
17.514.943E-5Guo2018 T
CHD2     M30955chr15:
93467610-93467610
AGexonicMaternalnonsynonymous SNVNM_001042572
NM_001271
c.A122G
c.A122G
p.Q41R
p.Q41R
16.45-Guo2018 T
CHD2     Uddin2014:33chr15:
93518170-93518170
AGexonicDe novononsynonymous SNVNM_001271c.A2567Gp.D856G19.58-Uddin2014 E
CHD2     08C72540chr15:
93563256-93563256
CTexonicDe novostopgainNM_001271c.C4921Tp.Q1641X49.0-Satterstrom2020 E
CHD2     AU1056302chr15:
93552444-93552444
GAexonicDe novononsynonymous SNVNM_001271c.G4483Ap.V1495M32.08.256E-6Wang2020 T
Wang2020 T
CHD2     10C100480chr15:
93518170-93518170
AGexonicDe novononsynonymous SNVNM_001271c.A2567Gp.D856G19.58-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
CHD2     DEASD_0193_001chr15:
93524620-93524620
GAexonicDe novononsynonymous SNVNM_001271c.G2999Ap.R1000Q19.26-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
CHD2     DEASD_0174_001chr15:
93536154-93536154
GAexonicDe novononsynonymous SNVNM_001271c.G3521Ap.G1174D35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
CHD2     AU075803chr15:
93447754-93447754
CTintronicDe novo--Yuen2017 G
CHD2     M31820chr15:
93540268-93540268
ACexonicMaternalnonsynonymous SNVNM_001271c.A3677Cp.E1226A18.75-Guo2018 T
CHD2     GX0497.p1chr15:
93489283-93489283
CTexonicMaternalnonsynonymous SNVNM_001042572
NM_001271
c.C1214T
c.C1214T
p.P405L
p.P405L
15.691.0E-4Guo2018 T
CHD2     M30916chr15:
93543769-93543769
GTexonicMaternalnonsynonymous SNVNM_001271c.G4036Tp.V1346L13.914.958E-5Guo2018 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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