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Results for "HUWE1"

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
HUWE1     Bruno2021:XXchrX:
53574793-53574796
TGGTTexonicDe novononframeshift deletionNM_031407c.10474_10476delp.3492_3492del--Bruno2021 E
HUWE1     AU3720302chrX:
53650607-53650616
CAAAAAAAAACAAAAAAAAAAintronicDe novo--Yuen2017 G
HUWE1     2-0028-003chrX:
53888978-53888978
GCintergenicDe novo--Yuen2017 G
HUWE1     80001101001chrX:
53629649-53629649
AAATATintronicDe novo--Satterstrom2020 E
HUWE1     A27chrX:
53577062-53577062
GAintronicDe novo--Wu2018 G
HUWE1     12378.p1chrX:
53577640-53577640
TGexonicDe novononsynonymous SNVNM_031407c.A9475Cp.S3159R15.162.339E-5Ji2016 E
HUWE1     DEASD_0403_001chrX:
53603952-53603952
TCexonicDe novononsynonymous SNVNM_031407c.A5792Gp.K1931R20.6-Satterstrom2020 E
HUWE1     14682.p1chrX:
53641611-53641611
GAexonicDe novosynonymous SNVNM_031407c.C2145Tp.P715P--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
HUWE1     AU3865301chrX:
53907448-53907448
GAintergenicDe novo--Yuen2017 G
HUWE1     Lee2020:87chrX:
53658518-53658518
CTsplicingsplicing19.21-Lee2020 T
HUWE1     SP0034740chrX:
53574886-53574886
TCexonicDe novononsynonymous SNVNM_031407c.A10384Gp.I3462V13.782.612E-5Feliciano2019 E
HUWE1     Chen2021:8chrX:
53658518-53658518
CAsplicingDe novosplicing18.91-Chen2021 GET
HUWE1     iHART2366chrX:
53578391-53578392
CACexonicUnknownframeshift deletionNM_031407c.8931delTp.P2977fs--Ruzzo2019 G
HUWE1     1-0075-003chrX:
53792937-53792937
GAintergenicDe novo--Yuen2017 G
HUWE1     214-17090-1chrX:
53596703-53596703
GAexonicUnknownnonsynonymous SNVNM_031407c.C6397Tp.R2133C21.3-Stessman2017 T
HUWE1     AU031403chrX:
53600206-53600214
GTTTTTTTTGTTTTTTTTTintronicDe novo--Yuen2017 G
HUWE1     AU3763305chrX:
53644480-53644489
TAAAAAAAAATAAAAAAAAAAintronicDe novo--Yuen2017 G
HUWE1     G5A3SchrX:
53565406-53565406
CTexonicUnknownnonsynonymous SNVNM_031407c.G11888Ap.R3963H17.0-Stessman2017 T
HUWE1     03C16777chrX:
53616538-53616538
CTexonicPaternalnonsynonymous SNVNM_031407c.G4430Ap.R1477H32.01.139E-5Stessman2017 T
HUWE1     B0644chrX:
53658518-53658518
CAsplicingDe novosplicing18.91-Xiong2019 ET
HUWE1     G01-GEA-42-HIchrX:
53644372-53644372
GAexonicDe novononsynonymous SNVNM_031407c.C1708Tp.P570S27.5-Satterstrom2020 E
HUWE1     G01-GEA-332_HIchrX:
53578035-53578035
CTexonicDe novononsynonymous SNVNM_031407c.G9212Ap.R3071H19.5-Satterstrom2020 E
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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