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Results for "USP9X"

Variant Events: 14

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
USP9X     SF0061574.p1chrX:
40982956-40982956		GGCexonicframeshift insertionNM_001039590
NM_001039591		c.76dupC
c.76dupC		p.Q25fs
p.Q25fs		-6.306E-5Wang2020 T
USP9X     SP0001598chrX:
40994022-40994022		GAexonicDe novononsynonymous SNVNM_001039590
NM_001039591		c.G367A
c.G367A		p.G123R
p.G123R		24.3-Feliciano2019 E
Trost2022 G
Zhou2022 GE
USP9X     SF0105069.p1chrX:
41075795-41075795		GAexonicnonsynonymous SNVNM_001039590
NM_001039591		c.G5975A
c.G5975A		p.R1992Q
p.R1992Q		17.82-Wang2020 T
USP9X     Hu2022:61chrX:
41029747-41029747		ACexonicMaternalnonsynonymous SNVNM_001039590
NM_001039591		c.A2902C
c.A2902C		p.I968L
p.I968L		14.72-Hu2022 T
USP9X     SF0100797.p1chrX:
40999999-40999999		GAexonicnonsynonymous SNVNM_001039590
NM_001039591		c.G745A
c.G745A		p.V249I
p.V249I		17.147.116E-5Wang2020 T
USP9X     SP0100797chrX:
40999999-40999999		GAexonicnonsynonymous SNVNM_001039590
NM_001039591		c.G745A
c.G745A		p.V249I
p.V249I		17.147.116E-5Zhou2022 GE
USP9X     SP0061574chrX:
40982956-40982956		GGCexonicframeshift insertionNM_001039590
NM_001039591		c.76dupC
c.76dupC		p.Q25fs
p.Q25fs		-6.306E-5Zhou2022 GE
USP9X     SP0105069chrX:
41075795-41075795		GAexonicnonsynonymous SNVNM_001039590
NM_001039591		c.G5975A
c.G5975A		p.R1992Q
p.R1992Q		17.82-Zhou2022 GE
USP9X     7-0256-003chrX:
41073413-41073413		TAintronicDe novo--Yuen2017 G
USP9X     2-1230-003chrX:
41061035-41061035		CAintronicDe novo--Yuen2017 G
USP9X     SSC08551chrX:
41027280-41027280		CTexonicDe novosynonymous SNVNM_001039590
NM_001039591		c.C2445T
c.C2445T		p.F815F
p.F815F		--Trost2022 G
USP9X     Al-Mubarak2017:ASD-64chrX:
41047363-41047363		AGexonicUnknownnonsynonymous SNVNM_001039590
NM_001039591		c.A3803G
c.A3803G		p.Y1268C
p.Y1268C		14.0-Al-Mubarak2017 E
USP9X     13910.p1chrX:
41025217-41025217		ATexonicUnknown, De novononsynonymous SNVNM_001039590
NM_001039591		c.A2078T
c.A2078T		p.D693V
p.D693V		21.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
USP9X     13647.p1chrX:
41027280-41027280		CTexonicDe novosynonymous SNVNM_001039590
NM_001039591		c.C2445T
c.C2445T		p.F815F
p.F815F		--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
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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