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Results for "HECTD1"

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
HECTD1     AC02-1141-01chr14:
31617980-31617980
TCexonicDe novononsynonymous SNVNM_015382c.A2443Gp.T815A13.944.0E-4Lim2017 E
HECTD1     F1961-1chr14:
31644261-31644261
GAexonicDe novosynonymous SNVNM_015382c.C459Tp.D153D--Satterstrom2020 E
HECTD1     AU031104chr14:
31617938-31617944
TTTTTTCTTTTTTTCexonicInheritedframeshift insertionNM_015382c.2485dupAp.T829fs--Stessman2017 T
HECTD1     7-0248-003chr14:
31597414-31597414
CTintronicDe novo--Yuen2017 G
HECTD1     GX0310.p1chr14:
31604297-31604297
CTexonicPaternalnonsynonymous SNVNM_015382c.G3359Ap.R1120H35.04.968E-5Guo2018 T
HECTD1     GX0311.p1chr14:
31604297-31604297
CTexonicPaternalnonsynonymous SNVNM_015382c.G3359Ap.R1120H35.04.968E-5Guo2018 T
HECTD1     07C71131chr14:
31604127-31604127
AGexonicDe novononsynonymous SNVNM_015382c.T3529Cp.W1177R23.7-Satterstrom2020 E
HECTD1     M23745chr14:
31589041-31589041
CAexonicUnknownnonsynonymous SNVNM_015382c.G5270Tp.R1757L32.0-Guo2018 T
Wang2016 T
HECTD1     HN0100.p1chr14:
31604686-31604686
CTexonicPaternalnonsynonymous SNVNM_015382c.G3250Ap.A1084T36.08.791E-6Guo2018 T
HECTD1     M23194chr14:
31647374-31647374
CTexonicMaternalnonsynonymous SNVNM_015382c.G227Ap.R76H34.08.281E-6Guo2018 T
Wang2016 T
HECTD1     1-0173-004chr14:
31635682-31635682
GAintronicDe novo--Yuen2017 G
HECTD1     M16087chr14:
31585593-31585593
CTexonicUnknownnonsynonymous SNVNM_015382c.G5467Ap.V1823I32.08.285E-6Guo2018 T
Wang2016 T
HECTD1     GX0483.p1chr14:
31604297-31604297
CTexonicPaternalnonsynonymous SNVNM_015382c.G3359Ap.R1120H35.04.968E-5Guo2018 T
HECTD1     12787.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_015382
NM_015382
c.1289_1291del
c.1288_1290del
p.430_431del
p.430_430del
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
HECTD1     D9Y6Bchr14:
31638665-31638665
GAexonicUnknownnonsynonymous SNVNM_015382c.C1342Tp.R448W19.18-Stessman2017 T
HECTD1     13711.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_015382c.2764dupAp.T922fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
HECTD1     AU3727302chr14:
31737739-31737739
CAintergenicDe novo--Yuen2017 G
HECTD1     2-1715-004chr14:
31673678-31673681
TCTATintronicDe novo--Yuen2017 G
HECTD1     M32292chr14:
31642985-31642985
CTexonicMaternalnonsynonymous SNVNM_015382c.G631Ap.A211T35.03.966E-5Guo2018 T
HECTD1     GX0242.p1chr14:
31609141-31609141
GAexonicMaternalnonsynonymous SNVNM_015382c.C2936Tp.P979L35.08.286E-6Guo2018 T
HECTD1     AU016504chr14:
31618126-31618126
GAexonicInheritednonsynonymous SNVNM_015382c.C2396Tp.S799L35.01.658E-5Stessman2017 T
HECTD1     2-1715-003chr14:
31673678-31673681
TCTATintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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