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Results for "DDX3X"

Variant Events: 60

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
DDX3X     1-0554-003chrX:
41202568-41202568		ACexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A595C
c.A643C
c.A643C		p.K199Q
p.K215Q
p.K215Q		16.56-Wang2020 T
Zhou2022 GE
DDX3X     Mahjani2021:24chrX:
41204663-41204663		GAexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G1129A
c.G1177A
c.G1177A		p.A377T
p.A393T
p.A393T		23.1-Mahjani2021 E
DDX3X     M23673chrX:
41202082-41202082		TCexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.T488C
c.T536C
c.T536C		p.I163T
p.I179T
p.I179T		16.7-Guo2018 T
DDX3X     HN0072.p1chrX:
41196659-41196659		AGsplicingDe novosplicing18.98-Guo2018 T
DDX3X     SP0144606chrX:
41204685-41204686		ATCexonicframeshift substitutionNM_001193417
NM_001193416
NM_001356		c.1151_1152C
c.1199_1200C
c.1199_1200C		N/A
N/A
N/A		--Zhou2022 GE
DDX3X     AU3645301chrX:
41291089-41291093		TTTTTTTTTTGTTTTintergenicDe novo--Yuen2017 G
DDX3X     MSSNG00062-003chrX:
41204498-41204498		TCexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.T1043C
c.T1091C
c.T1091C		p.I348T
p.I364T
p.I364T		23.9-Zhou2022 GE
DDX3X     GX0527.p1chrX:
41201782-41201782		AGexonicMaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A271G
c.A319G
c.A319G		p.I91V
p.I107V
p.I107V		9.704-Guo2018 T
DDX3X     SP0142390chrX:
41206633-41206636		TCAGTexonicnonframeshift deletionNM_001193417
NM_001193416
NM_001356		c.1791_1793del
c.1836_1838del
c.1839_1841del		p.597_598del
p.612_613del
p.613_614del		--Zhou2022 GE
DDX3X     SP0056467chrX:
41205562-41205562		TGexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.T1348G
c.T1396G
c.T1396G		p.Y450D
p.Y466D
p.Y466D		23.3-Zhou2022 GE
DDX3X     SP0032002chrX:
41201896-41201896		CTexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C385T
c.C433T
c.C433T		p.R129C
p.R145C
p.R145C		18.84-Zhou2022 GE
DDX3X     M08437chrX:
41204570-41204570		AGexonicMaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A1115G
c.A1163G
c.A1163G		p.E372G
p.E388G
p.E388G		21.9-Guo2018 T
DDX3X     M08692chrX:
41201831-41201831		GTexonicMaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G320T
c.G368T
c.G368T		p.G107V
p.G123V
p.G123V		27.0-Guo2018 T
DDX3X     Leuven_72563570chrX:
41203598-41203598		CAexonicUnknownnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C923A
c.C971A
c.C971A		p.P308Q
p.P324Q
p.P324Q		31.0-Wang2020 T
DDX3X     1-0554-003chrX:
41202565-41202566		ATAexonicDe novoframeshift deletionNM_001193417
NM_001193416
NM_001356		c.593delT
c.641delT
c.641delT		p.I198fs
p.I214fs
p.I214fs		--Wang2020 T
Yuen2017 G
Zhou2022 GE
DDX3X     REACH000555chrX:
41205773-41205773		CGexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C1465G
c.C1513G
c.C1513G		p.L489V
p.L505V
p.L505V		18.55-Antaki2022 GE
Zhou2022 GE
DDX3X     SP0177412chrX:
41204436-41204436		CAexonicstopgainNM_001193417
NM_001193416
NM_001356		c.C981A
c.C1029A
c.C1029A		p.Y327X
p.Y343X
p.Y343X		44.0-Zhou2022 GE
DDX3X     iHART2292chrX:
41206571-41206571		AATexonicDe novoframeshift insertionNM_001193417
NM_001193416
NM_001356		c.1729dupT
c.1774dupT
c.1777dupT		p.R576fs
p.R591fs
p.R592fs		--Ruzzo2019 G
DDX3X     Hu2022:57chrX:
41196685-41196685		TGexonicMaternalnonsynonymous SNVNM_001193416
NM_001193417
NM_001356		c.T70G
c.T70G
c.T70G		p.S24A
p.S24A
p.S24A		13.81-Hu2022 T
DDX3X     JASD_Fam0079chrX:
41203604-41203604		GAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G929A
c.G977A
c.G977A		p.R310H
p.R326H
p.R326H		35.0-Takata2018 E
DDX3X     REACH000479chrX:
41203341-41203343		CGACexonicframeshift deletionNM_001193417
NM_001193416
NM_001356		c.777_778del
c.825_826del
c.825_826del		p.T259fs
p.T275fs
p.T275fs		--Antaki2022 GE
DDX3X     SP0174084chrX:
41202566-41202566		TCexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.T593C
c.T641C
c.T641C		p.I198T
p.I214T
p.I214T		24.3-Zhou2022 GE
DDX3X     SP0158945chrX:
41202458-41202461		TTTCTintronic--Zhou2022 GE
DDX3X     ACGC_GD0216.p1chrX:
41201996-41201996		CCTexonicUnknownframeshift insertionNM_001193417
NM_001193416
NM_001356		c.403dupT
c.451dupT
c.451dupT		p.L134fs
p.L150fs
p.L150fs		--Wang2020 T
DDX3X     11999.p1chrX:
41204655-41204655		AGsplicingUnknown, De novosplicing16.92-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Willsey2013 E
Zhou2022 GE
DDX3X     M08434chrX:
41204570-41204570		AGexonicUnknownnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A1115G
c.A1163G
c.A1163G		p.E372G
p.E388G
p.E388G		21.9-Guo2018 T
DDX3X     Ohashi2021:ASD-097chrX:
41205762-41205762		CAexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C1454A
c.C1502A
c.C1502A		p.A485E
p.A501E
p.A501E		26.9-Ohashi2021 ET
DDX3X     Lennox2020:3429-0chrX:
41202494-41202494		TGexonicUnknownnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.T521G
c.T569G
c.T569G		p.I174S
p.I190S
p.I190S		24.3-Lennox2020 T
DDX3X     Lennox2020:2755-0chrX:
41200758-41200758		CAexonicDe novostopgainNM_001193417
NM_001193416
NM_001356		c.C125A
c.C173A
c.C173A		p.S42X
p.S58X
p.S58X		28.8-Lennox2020 T
DDX3X     ACGC_HN0072.p1chrX:
41196659-41196659		AGsplicingDe novosplicing18.98-Wang2020 T
DDX3X     Lennox2020:2532-0chrX:
41202565-41202568		ATCAACCexonicDe novoframeshift substitutionNM_001193417
NM_001193416
NM_001356		c.593_595CC
c.641_643CC
c.641_643CC		N/A
N/A
N/A		--Lennox2020 T
DDX3X     Lennox2020:2613-0chrX:
41202544-41202544		CTexonicDe novostopgainNM_001193417
NM_001193416
NM_001356		c.C571T
c.C619T
c.C619T		p.Q191X
p.Q207X
p.Q207X		37.0-Lennox2020 T
DDX3X     Lennox2020:2773-0chrX:
41196695-41196695		AAAexonicDe novoframeshift insertionNM_001193416
NM_001193417
NM_001356		c.80dupA
c.80dupA
c.80dupA		p.Q27fs
p.Q27fs
p.Q27fs		--Lennox2020 T
DDX3X     Lennox2020:3440-0chrX:
41196686-41196686		CAexonicDe novostopgainNM_001193416
NM_001193417
NM_001356		c.C71A
c.C71A
c.C71A		p.S24X
p.S24X
p.S24X		35.0-Lennox2020 T
DDX3X     Lennox2020:2839-0chrX:
41204533-41204533		CTexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C1078T
c.C1126T
c.C1126T		p.R360C
p.R376C
p.R376C		22.2-Lennox2020 T
DDX3X     Lennox2020:3480-0chrX:
41204512-41204512		AGexonicMaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A1057G
c.A1105G
c.A1105G		p.T353A
p.T369A
p.T369A		15.73-Lennox2020 T
DDX3X     Lennox2020:2488-0chrX:
41204736-41204736		ACexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A1202C
c.A1250C
c.A1250C		p.Q401P
p.Q417P
p.Q417P		23.7-Lennox2020 T
DDX3X     Lennox2020:3449-0chrX:
41204544-41204547		GATGGexonicDe novononframeshift deletionNM_001193417
NM_001193416
NM_001356		c.1090_1092del
c.1138_1140del
c.1138_1140del		p.364_364del
p.380_380del
p.380_380del		--Lennox2020 T
DDX3X     Lennox2020:2504-0chrX:
41203055-41203055		GTexonicDe novostopgainNM_001193417
NM_001193416
NM_001356		c.G697T
c.G745T
c.G745T		p.E233X
p.E249X
p.E249X		45.0-Lennox2020 T
DDX3X     Lennox2020:2503-0chrX:
41203008-41203008		CTexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C650T
c.C698T
c.C698T		p.A217V
p.A233V
p.A233V		35.0-Lennox2020 T
DDX3X     Lennox2020:3437-0chrX:
41203604-41203604		GAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G929A
c.G977A
c.G977A		p.R310H
p.R326H
p.R326H		35.0-Lennox2020 T
DDX3X     Lennox2020:2241-0chrX:
41193515-41193515		GAexonicDe novononsynonymous SNVNM_001193416
NM_001193417
NM_001356		c.G10A
c.G10A
c.G10A		p.V4M
p.V4M
p.V4M		20.5-Lennox2020 T
DDX3X     Lennox2020:1954-0chrX:
41205855-41205855		CTexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C1547T
c.C1595T
c.C1595T		p.T516M
p.T532M
p.T532M		25.1-Lennox2020 T
DDX3X     SF0032002.p1chrX:
41201896-41201896		CTexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C385T
c.C433T
c.C433T		p.R129C
p.R145C
p.R145C		18.84-Wang2020 T
DDX3X     Lennox2020:3424-0chrX:
41205794-41205796		CATCexonicUnknownframeshift deletionNM_001193417
NM_001193416
NM_001356		c.1487_1488del
c.1535_1536del
c.1535_1536del		p.H496fs
p.H512fs
p.H512fs		--Lennox2020 T
DDX3X     Lennox2020:2704-0chrX:
41206206-41206206		GAexonicDe novostopgainNM_001193417
NM_001193416
NM_001356		c.G1662A
c.G1710A
c.G1710A		p.W554X
p.W570X
p.W570X		46.0-Lennox2020 T
DDX3X     Lennox2020:2874-0chrX:
41206224-41206224		TGexonicDe novostopgainNM_001193417
NM_001193416
NM_001356		c.T1680G
c.T1728G
c.T1728G		p.Y560X
p.Y576X
p.Y576X		45.0-Lennox2020 T
DDX3X     SF0056467.p1chrX:
41205562-41205562		TGexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.T1348G
c.T1396G
c.T1396G		p.Y450D
p.Y466D
p.Y466D		23.3-Wang2020 T
DDX3X     Lennox2020:2594-0chrX:
41205551-41205551		AATAexonicDe novoframeshift insertionNM_001193417
NM_001193416
NM_001356		c.1337_1338insTA
c.1385_1386insTA
c.1385_1386insTA		p.Y446fs
p.Y462fs
p.Y462fs		--Lennox2020 T
DDX3X     HEN0078.p1chrX:
41202482-41202482		ACexonicPaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A509C
c.A557C
c.A557C		p.E170A
p.E186A
p.E186A		14.8-Guo2018 T
DDX3X     Lennox2020:2506-0chrX:
41205549-41205549		AAAexonicDe novoframeshift insertionNM_001193417
NM_001193416
NM_001356		c.1335dupA
c.1383dupA
c.1383dupA		p.L445fs
p.L461fs
p.L461fs		--Lennox2020 T
DDX3X     Lennox2020:2872-0chrX:
41205629-41205629		GAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G1415A
c.G1463A
c.G1463A		p.R472H
p.R488H
p.R488H		23.5-Lennox2020 T
DDX3X     Lennox2020:2741-0chrX:
41205627-41205628		CCCexonicDe novoframeshift deletionNM_001193417
NM_001193416
NM_001356		c.1414delC
c.1462delC
c.1462delC		p.R472fs
p.R488fs
p.R488fs		--Lennox2020 T
DDX3X     Valentino2021:11chrX:
41203603-41203603		CTexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C928T
c.C976T
c.C976T		p.R310C
p.R326C
p.R326C		34.0-Valentino2021 E
DDX3X     2-1509-003chrX:
41286818-41286818		TGintergenicDe novo--Yuen2017 G
DDX3X     M08566chrX:
41206243-41206243		AGexonicPaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.A1699G
c.A1747G
c.A1747G		p.S567G
p.S583G
p.S583G		11.02-Guo2018 T
DDX3X     Miyake2023:9852chrX:
41203604-41203604		GAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G929A
c.G977A
c.G977A		p.R310H
p.R326H
p.R326H		35.0-Miyake2023 E
DDX3X     Bruno2021:LXchrX:
41201762-41201762		GTexonicMaternalnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G251T
c.G299T
c.G299T		p.G84V
p.G100V
p.G100V		21.9-Bruno2021 E
DDX3X     Miyake2023:19016chrX:
41205762-41205762		CAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.C1454A
c.C1502A
c.C1502A		p.A485E
p.A501E
p.A501E		26.9-Miyake2023 E
DDX3X     SAGE_BK_590.02chrX:
41202544-41202544		CTexonicUnknownstopgainNM_001193417
NM_001193416
NM_001356		c.C571T
c.C619T
c.C619T		p.Q191X
p.Q207X
p.Q207X		37.0-Wang2020 T
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
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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
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