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Results for "Lennox2020"

Variant Events: 22

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     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     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     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     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
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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