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Results for "HECTD4"

Variant Events: 26

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
HECTD4     2-1300-003chr12:
112724318-112724333
AACACACACACACACAAACACACACACACAintronicDe novo--Yuen2017 G
HECTD4     SP0083761chr12:
112623062-112623062
GTexonicDe novostopgainNM_001109662c.C9306Ap.C3102X52.0-Antaki2022 GE
Fu2022 E
HECTD4     AU4015301chr12:
112780498-112780498
GTintronicDe novo--Yuen2017 G
HECTD4     1245011chr12:
112708033-112708033
GCexonicDe novononsynonymous SNVNM_001109662c.C1741Gp.Q581E19.14-Fu2022 E
Satterstrom2020 E
HECTD4     AU08903chr12:
112600303-112600303
CTexonicDe novononsynonymous SNVNM_001109662c.G12743Ap.R4248H35.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HECTD4     UK10K_SKUSE5080168chr12:
112607491-112607491
ACintronicDe novo-0.0218DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
HECTD4     AU040Achr12:
112614406-112614406
GAexonicDe novostopgainNM_001109662c.C11062Tp.Q3688X57.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HECTD4     Mahjani2021:34chr12:
112697067-112697067
ATexonicstopgainNM_001109662c.T2444Ap.L815X42.0-Mahjani2021 E
HECTD4     SP0123783chr12:
112716990-112716990
TGintronicDe novo--Fu2022 E
HECTD4     13589.p1chr12:
112654745-112654745
GCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
HECTD4     SP0112671chr12:
112757517-112757517
CTUTR5De novo--Fu2022 E
HECTD4     14071_p1chr12:
112623302-112623302
GTintronicDe novo--Fu2022 E
HECTD4     5012chr12:
112608244-112608247
TAGATexonicDe novononframeshift deletionNM_001109662c.11540_11542delp.3847_3848del--Fu2022 E
HECTD4     SP0085898chr12:
112690287-112690287
GCexonicDe novononsynonymous SNVNM_001109662c.C3091Gp.R1031G31.0-Fu2022 E
HECTD4     SP0001591chr12:
112757432-112757432
GAUTR5De novo--Fu2022 E
HECTD4     Husson2020:285chr12:
112622934-112622935
CCCexonicMaternalframeshift deletionNM_001109662c.9433delGp.G3145fs--Husson2020 E
HECTD4     AU3727303chr12:
112743338-112743338
TCintronicDe novo--Yuen2017 G
HECTD4     2-1277-004chr12:
112669403-112669403
TTGexonicDe novoframeshift insertionNM_001109662c.5711dupCp.P1904fs--Yuen2017 G
HECTD4     AU030703chr12:
112604674-112604674
CTintronicDe novo--Yuen2017 G
HECTD4     12072.p1chr12:
112681380-112681380
GAintronicDe novo--Satterstrom2020 E
HECTD4     Lim2017:68711chr12:
112638596-112638596
CAexonicDe novostopgainNM_001109662c.G8011Tp.E2671X54.0-Lim2017 E
HECTD4     13815.p1chr12:
112608244-112608247
TAGATexonicDe novononframeshift deletionNM_001109662c.11540_11542delp.3847_3848del--Satterstrom2020 E
HECTD4     1-0744-003chr12:
112675965-112675968
TAAATAAintronicDe novo--Yuen2017 G
HECTD4     19890-31485chr12:
112677784-112677784
GTexonicInheritednonsynonymous SNVNM_001109662c.C4604Ap.A1535D33.0-Callaghan2019 G
HECTD4     12540.p1chr12:
112638596-112638596
CAexonicDe novo, MosaicstopgainNM_001109662c.G8011Tp.E2671X54.0-Dou2017 E
Ji2016 E
Krumm2015 E
HECTD4     1-0206-004chr12:
112722771-112722771
GAintronicDe novo--Yuen2017 G
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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