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Results for "DDX3X"

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
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     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     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     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     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     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     HN0072.p1chrX:
41196659-41196659
AGsplicingDe novosplicing18.98-Guo2018 T
Wang2020 T
Wang2020 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     AU3645301chrX:
41291089-41291093
TTTTTTTTTTGTTTTintergenicDe novo--Yuen2017 G
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     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     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     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
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     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     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     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     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     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
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     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     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
Wang2020 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     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     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
Wang2020 T
DDX3X     SF0056467.p1chrX:
41205562-41205562
TGexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356
c.T1348G
c.T1396G
c.T1396G
p.Y450D
p.Y466D
p.Y466D
23.3-Wang2020 T
DDX3X     SF0032002.p1chrX:
41201896-41201896
CTexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356
c.C385T
c.C433T
c.C433T
p.R129C
p.R145C
p.R145C
18.84-Wang2020 T
DDX3X     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
AGsplicingDe novosplicing16.92-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Willsey2013 E
Source Variant Information

, -

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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