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Results for "CHD2"

Variant Events: 112

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
CHD2     09C80382chr15:
93521585-93521585		GAexonicDe novononsynonymous SNVNM_001271c.G2699Ap.R900Q36.0-Stessman2017 T
Stessman2017 T
CHD2     ACGC_M23688chr15:
93563389-93563389		GAexonicUnknownnonsynonymous SNVNM_001271c.G5054Ap.R1685H36.08.24E-6Wang2020 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     M12327chr15:
93467570-93467570		GAexonicMaternal, Unknownnonsynonymous SNVNM_001042572
NM_001271		c.G82A
c.G82A		p.A28T
p.A28T		17.06-Guo2018 T
Wang2016 T
CHD2     AU015203chr15:
93567810-93567810		CTexonicUnknownnonsynonymous SNVNM_001271c.C5362Tp.R1788C20.72.484E-5Stessman2017 T
CHD2     Husson2020:382chr15:
93486240-93486245		GTGAAGGexonicframeshift deletionNM_001042572
NM_001271		c.995_999del
c.995_999del		p.V332fs
p.V332fs		--Husson2020 E
CHD2     SMHC01912s000chr15:
93521558-93521558		CAexonicDe novononsynonymous SNVNM_001271c.C2672Ap.P891H28.3-Yuan2023 E
CHD2     ACGC_M18930chr15:
93543766-93543766		CTexonicPaternalnonsynonymous SNVNM_001271c.C4033Tp.R1345W25.3-Wang2020 T
CHD2     SP0021651chr15:
93521578-93521578		CTexonicstopgainNM_001271c.C2692Tp.Q898X26.5-Antaki2022 GE
CHD2     SP0040833chr15:
93489375-93489375		ATexonicDe novostopgainNM_001042572
NM_001271		c.A1306T
c.A1306T		p.K436X
p.K436X		44.0-Antaki2022 GE
Fu2022 E
CHD2     SP0103757chr15:
93521588-93521588		CGexonicDe novononsynonymous SNVNM_001271c.C2702Gp.A901G32.0-Antaki2022 GE
Fu2022 E
CHD2     SP0141034chr15:
93521585-93521585		GAexonicDe novononsynonymous SNVNM_001271c.G2699Ap.R900Q36.0-Antaki2022 GE
Fu2022 E
CHD2     SP0006321chr15:
93486234-93486234		CTexonicDe novostopgainNM_001042572
NM_001271		c.C988T
c.C988T		p.Q330X
p.Q330X		45.0-Antaki2022 GE
Fu2022 E
CHD2     SSC09139chr15:
93524060-93524064		TAAAGTexonicDe novoframeshift deletionNM_001271c.2893_2896delp.K965fs--Antaki2022 GE
Fu2022 E
CHD2     SP0001493chr15:
93522377-93522377		CTexonicDe novononsynonymous SNVNM_001271c.C2740Tp.R914C32.0-Antaki2022 GE
Fu2022 E
CHD2     SSC09153chr15:
93563282-93563282		TTGexonicDe novoframeshift insertionNM_001271c.4948dupGp.G1649fs--Antaki2022 GE
Fu2022 E
CHD2     SSC08628chr15:
93563244-93563244		CTexonicstopgainNM_001271c.C4909Tp.R1637X49.0-Antaki2022 GE
CHD2     AGRE_AU1056302chr15:
93552444-93552444		GAexonicDe novononsynonymous SNVNM_001271c.G4483Ap.V1495M32.08.256E-6Wang2020 T
CHD2     AGRE_09C80382chr15:
93521585-93521585		GAexonicDe novononsynonymous SNVNM_001271c.G2699Ap.R900Q36.0-Wang2020 T
CHD2     TASC_215-13023-0303chr15:
93563256-93563256		CTexonicDe novostopgainNM_001271c.C4921Tp.Q1641X49.0-Wang2020 T
CHD2     ACGC_HEN0362.p1chr15:
93518107-93518107		AGsplicingDe novosplicing24.0-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     GX0026.p1chr15:
93467733-93467733		CGexonicPaternalnonsynonymous SNVNM_001042572
NM_001271		c.C245G
c.C245G		p.A82G
p.A82G		16.738.241E-6Guo2018 T
CHD2     GX0036.p1chr15:
93547866-93547866		AGexonicPaternalnonsynonymous SNVNM_001271c.A4298Gp.K1433R28.6-Guo2018 T
CHD2     GX0393.p1chr15:
93487683-93487683		AGexonicPaternalnonsynonymous SNVNM_001042572
NM_001271		c.A1091G
c.A1091G		p.N364S
p.N364S		14.713.0E-4Guo2018 T
CHD2     2-1342-003chr15:
93570208-93570208		GAUTR3De novo--Yuen2016 G
Yuen2017 G
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
CHD2     M15237chr15:
93540500-93540500		GAexonicPaternalnonsynonymous SNVNM_001271c.G3752Ap.R1251H14.731.648E-5Guo2018 T
Wang2016 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     Greenwood_17702chr15:
93552468-93552468		CTexonicUnknownnonsynonymous SNVNM_001271c.C4507Tp.R1503W27.38.25E-6Wang2020 T
CHD2     Melbourne2_ASD_1285chr15:
93482923-93482923		CTexonicUnknownnonsynonymous SNVNM_001042572
NM_001271		c.C667T
c.C667T		p.R223C
p.R223C		24.52.474E-5Wang2020 T
CHD2     Leuven2_62561782chr15:
93470506-93470506		CGexonicUnknownsynonymous SNVNM_001042572
NM_001271		c.C327G
c.C327G		p.V109V
p.V109V		-8.281E-6Wang2020 T
CHD2     AGRE_AU015203chr15:
93567810-93567810		CTexonicUnknownnonsynonymous SNVNM_001271c.C5362Tp.R1788C20.72.484E-5Wang2020 T
CHD2     1-0862-003chr15:
93559818-93559818		AGintronicDe novo--Yuen2017 G
CHD2     SanDiego_T3A5Lchr15:
93482851-93482851		CTexonicUnknownnonsynonymous SNVNM_001042572
NM_001271		c.C595T
c.C595T		p.R199C
p.R199C		25.12.471E-5Wang2020 T
CHD2     SAGE_309.03chr15:
93528836-93528836		CTexonicUnknownnonsynonymous SNVNM_001271c.C3346Tp.R1116C27.48.249E-6Wang2020 T
CHD2     2-1456-004chr15:
93545485-93545485		AGexonicDe novononsynonymous SNVNM_001271c.A4216Gp.S1406G10.04-Wang2020 T
Yuen2017 G
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     AU3632301chr15:
93524348-93524348		GTintronicDe novo--Yuen2017 G
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     10C100480chr15:
93518170-93518170		AGexonicDe novo, Unknownnonsynonymous SNVNM_001271c.A2567Gp.D856G19.58-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
CHD2     1-0221-003chr15:
93521602-93521602		CTexonicDe novostopgainNM_001271c.C2716Tp.Q906X27.2-Wang2020 T
CHD2     DEASD_3022_001chr15:
93524632-93524632		CCGexonicDe novoframeshift insertionNM_001271c.3012dupGp.T1004fs--Fu2022 E
CHD2     DEASD_0193_001chr15:
93524620-93524620		GAexonicDe novo, Unknownnonsynonymous SNVNM_001271c.G2999Ap.R1000Q19.26-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
CHD2     DEASD_0174_001chr15:
93536154-93536154		GAexonicDe novo, Unknownnonsynonymous SNVNM_001271c.G3521Ap.G1174D35.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
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
CHD2     13614_p1chr15:
93563244-93563244		CTexonicDe novostopgainNM_001271c.C4909Tp.R1637X49.0-Fu2022 E
CHD2     B221603chr15:
93541849-93541849		GTexonicDe novostopgainNM_001271c.G4006Tp.E1336X46.0-Fu2022 E
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     Leuven2_60700775chr15:
93486180-93486180		ATexonicUnknownstopgainNM_001042572
NM_001271		c.A934T
c.A934T		p.K312X
p.K312X		46.0-Wang2020 T
CHD2     M20684chr15:
93496650-93496650		CGexonicMaternalnonsynonymous SNVNM_001271c.C1566Gp.F522L16.3-Guo2018 T
Wang2016 T
CHD2     SanDiego_Z2T2Mchr15:
93563464-93563464		GAexonicUnknownnonsynonymous SNVNM_001271c.G5129Ap.R1710Q35.0-Wang2020 T
CHD2     SSC06347chr15:
93467760-93467760		AGexonicMosaicnonsynonymous SNVNM_001042572
NM_001271		c.A272G
c.A272G		p.E91G
p.E91G		16.16-Lim2017 E
CHD2     SanDiego_00287-G8V4Lchr15:
93444475-93444479		GAAATGexonicUnknownframeshift deletionNM_001042572
NM_001271		c.9_12del
c.9_12del		p.R3fs
p.R3fs		--Wang2020 T
CHD2     Leuven_256278chr15:
93489292-93489293		CACexonicUnknownframeshift deletionNM_001042572
NM_001271		c.1224delA
c.1224delA		p.S408fs
p.S408fs		--Wang2020 T
CHD2     M12422chr15:
93528788-93528788		GCexonicMaternalnonsynonymous SNVNM_001271c.G3298Cp.A1100P17.644.124E-5Wang2016 T
CHD2     Iowa_193_3_a.2.1chr15:
93489303-93489303		GAexonicUnknownnonsynonymous SNVNM_001042572
NM_001271		c.G1234A
c.G1234A		p.E412K
p.E412K		36.0-Wang2020 T
CHD2     215-13101-1183chr15:
93552420-93552420		GAexonicDe novononsynonymous SNVNM_001271c.G4459Ap.D1487N35.0-Stessman2017 T
CHD2     Leuven_192029chr15:
93480818-93480819		CACexonicUnknownframeshift deletionNM_001042572
NM_001271		c.515delA
c.515delA		p.Q172fs
p.Q172fs		-3.0E-4Wang2020 T
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     SP0045640chr15:
93540530-93540530		GAexonicDe novostopgainNM_001271c.G3782Ap.W1261X49.0-Feliciano2019 E
Fu2022 E
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
CHD2     M17542chr15:
93496635-93496635		CGexonicPaternalnonsynonymous SNVNM_001271c.C1551Gp.I517M18.34-Guo2018 T
Wang2016 T
CHD2     M13398chr15:
93528788-93528788		GCexonicPaternalnonsynonymous SNVNM_001271c.G3298Cp.A1100P17.644.124E-5Wang2016 T
CHD2     08C73996chr15:
93552420-93552420		GAexonicDe novononsynonymous SNVNM_001271c.G4459Ap.D1487N35.0-Fu2022 E
Satterstrom2020 E
CHD2     SF0103757.p1chr15:
93521588-93521588		CGexonicnonsynonymous SNVNM_001271c.C2702Gp.A901G32.0-Wang2020 T
CHD2     SF0141034.p1chr15:
93521585-93521585		GAexonicnonsynonymous SNVNM_001271c.G2699Ap.R900Q36.0-Wang2020 T
CHD2     T3A5Lchr15:
93482851-93482851		CTexonicUnknownnonsynonymous SNVNM_001042572
NM_001271		c.C595T
c.C595T		p.R199C
p.R199C		25.12.471E-5Stessman2017 T
CHD2     SF0045451.p1chr15:
93552516-93552516		GAexonicnonsynonymous SNVNM_001271c.G4555Ap.A1519T13.93-Wang2020 T
CHD2     1-0559-004chr15:
93491959-93491959		CTintronicDe novo--Yuen2017 G
CHD2     Mahjani2021:75chr15:
93541780-93541780		CTexonicstopgainNM_001271c.C3937Tp.R1313X47.0-Mahjani2021 E
CHD2     SF0001493.p1chr15:
93522377-93522377		CTexonicnonsynonymous SNVNM_001271c.C2740Tp.R914C32.0-Wang2020 T
CHD2     SF0006321.p1chr15:
93486234-93486234		CTexonicstopgainNM_001042572
NM_001271		c.C988T
c.C988T		p.Q330X
p.Q330X		45.0-Wang2020 T
CHD2     SF0040833.p1chr15:
93489375-93489375		ATexonicstopgainNM_001042572
NM_001271		c.A1306T
c.A1306T		p.K436X
p.K436X		44.0-Wang2020 T
CHD2     SF0110352.p2chr15:
93486256-93486256		ACexonicnonsynonymous SNVNM_001042572
NM_001271		c.A1010C
c.A1010C		p.K337T
p.K337T		26.4-Wang2020 T
CHD2     M03953chr15:
93486100-93486100		CC/TexonicPaternal--Guo2018 T
CHD2     Z2T2Mchr15:
93563464-93563464		GAexonicInheritednonsynonymous SNVNM_001271c.G5129Ap.R1710Q35.0-Stessman2017 T
CHD2     M23688chr15:
93563389-93563389		GAexonicUnknown, De novononsynonymous SNVNM_001271c.G5054Ap.R1685H36.08.24E-6Guo2018 T
Stessman2017 T
Wang2016 T
CHD2     256278chr15:
93489293-93489294		AAAexonicInheritedframeshift deletionNM_001042572
NM_001271		c.1225delA
c.1225delA		p.N409fs
p.N409fs		--Stessman2017 T
CHD2     1-0367-003chr15:
93479148-93479148		GAintronicDe novo--Yuen2017 G
CHD2     MS134chr15:
93498741-93498742		AGAexonicDe novoframeshift deletionNM_001271c.1809delGp.K603fs--O’Roak2014 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     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     HN0146.p1chr15:
93499791-93499791		TCexonicMaternalnonsynonymous SNVNM_001271c.T1912Cp.S638P29.0-Guo2018 T
CHD2     SP0110353chr15:
93486256-93486256		ACexonicDe novononsynonymous SNVNM_001042572
NM_001271		c.A1010C
c.A1010C		p.K337T
p.K337T		26.4-Fu2022 E
CHD2     AU3720302chr15:
93476721-93476721		CGintronicDe novo--Yuen2017 G
CHD2     SP0053702chr15:
93467482-93467483		ATAintronicDe novo--Fu2022 E
CHD2     HEN0219.p1chr15:
93555667-93555667		ACexonicMaternalnonsynonymous SNVNM_001271c.A4685Cp.E1562A20.3-Guo2018 T
CHD2     SP0045451chr15:
93552516-93552516		GAexonicDe novononsynonymous SNVNM_001271c.G4555Ap.A1519T13.93-Fu2022 E
CHD2     M20668chr15:
93567680-93567680		GAexonicMaternalnonsynonymous SNVNM_001271c.G5232Ap.M1744I17.493.316E-5Wang2016 T
CHD2     Uddin2014:33chr15:
93518170-93518170		AGexonicDe novononsynonymous SNVNM_001271c.A2567Gp.D856G19.58-Uddin2014 E
CHD2     SP0105402chr15:
93472323-93472324		TATintronicDe novo--Fu2022 E
CHD2     SP0033471chr15:
93522297-93522297		CTintronicDe novo--Fu2022 E
CHD2     08C72540chr15:
93563256-93563256		CTexonicDe novostopgainNM_001271c.C4921Tp.Q1641X49.0-Fu2022 E
Satterstrom2020 E
CHD2     AU075803chr15:
93447754-93447754		CTintronicDe novo--Yuen2017 G
Source Variant Information

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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.
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