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Results for "HECTD1"

Variant Events: 36

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     F1961-1chr14:
31644261-31644261		GAexonicDe novosynonymous SNVNM_015382c.C459Tp.D153D--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
HECTD1     7-0248-003chr14:
31597414-31597414		CTintronicDe novo--Trost2022 G
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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--Trost2022 G
Yuen2017 G
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
Zhou2022 GE
HECTD1     SP0123550chr14:
31598025-31598025		CAexonicDe novononsynonymous SNVNM_015382c.G4552Tp.V1518L18.744.972E-5Fu2022 E
Trost2022 G
Zhou2022 GE
HECTD1     D9Y6Bchr14:
31638665-31638665		GAexonicUnknownnonsynonymous SNVNM_015382c.C1342Tp.R448W19.18-Stessman2017 T
HECTD1     AU3727302chr14:
31737739-31737739		CAintergenicDe novo--Yuen2017 G
HECTD1     M32292chr14:
31642985-31642985		CTexonicMaternalnonsynonymous SNVNM_015382c.G631Ap.A211T35.03.966E-5Guo2018 T
HECTD1     SSC05553chr14:
31641107-31641110		AATGAexonicDe novononframeshift deletionNM_015382c.1289_1291delp.430_431del--Fu2022 E
Trost2022 G
HECTD1     SP0130244chr14:
31590600-31590600		TCexonicnonsynonymous SNVNM_015382c.A5227Gp.I1743V3.3525.808E-5Zhou2022 GE
HECTD1     GX0242.p1chr14:
31609141-31609141		GAexonicMaternalnonsynonymous SNVNM_015382c.C2936Tp.P979L35.08.286E-6Guo2018 T
HECTD1     70425chr14:
31613330-31613330		GGTexonicDe novoframeshift insertionNM_015382c.2764dupAp.T922fs--Fu2022 E
Trost2022 G
HECTD1     SP0007789chr14:
31641107-31641110		AATGAexonicnonframeshift deletionNM_015382c.1289_1291delp.430_431del--Zhou2022 GE
HECTD1     SP0141994chr14:
31583301-31583301		AGintronicDe novo-8.782E-6Fu2022 E
HECTD1     SP0024132chr14:
31609158-31609158		TCexonicDe novosynonymous SNVNM_015382c.A2919Gp.E973E--Fu2022 E
Trost2022 G
Zhou2022 GE
HECTD1     AU016504chr14:
31618126-31618126		GAexonicInheritednonsynonymous SNVNM_015382c.C2396Tp.S799L35.01.658E-5Stessman2017 T
HECTD1     AC02-1141-01chr14:
31617980-31617980		TCexonicDe novononsynonymous SNVNM_015382c.A2443Gp.T815A13.944.0E-4Lim2017 E
HECTD1     AU031104chr14:
31617938-31617944		TTTTTTCTTTTTTTCexonicInheritedframeshift insertionNM_015382c.2485dupAp.T829fs--Stessman2017 T
HECTD1     M16087chr14:
31585593-31585593		CTexonicUnknownnonsynonymous SNVNM_015382c.G5467Ap.V1823I32.08.285E-6Guo2018 T
Wang2016 T
HECTD1     SSC08701chr14:
31613330-31613330		GGTexonicframeshift insertionNM_015382c.2764dupAp.T922fs--Antaki2022 GE
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
Zhou2022 GE
HECTD1     2-1715-004chr14:
31673678-31673681		TCTATintronicDe novo--Trost2022 G
Yuen2017 G
HECTD1     7-0461-004chr14:
31651555-31651555		CTintronicDe novo--Trost2022 G
HECTD1     SP0185065chr14:
31674975-31674975		AGintronicDe novo--Trost2022 G
HECTD1     MSSNG00399-003chr14:
31611274-31611274		GCintronicDe novo--Trost2022 G
HECTD1     mAGRE4184chr14:
31617937-31617937		GGTexonicMaternalframeshift insertionNM_015382c.2485dupAp.T829fs--Cirnigliaro2023 G
HECTD1     3-0467-000chr14:
31624131-31624132		AGAintronicDe novo--Trost2022 G
HECTD1     2-1715-003chr14:
31673678-31673681		TCTATintronicDe novo--Trost2022 G
Yuen2017 G
HECTD1     1-0664-003Achr14:
31586586-31586586		ATintronicDe novo--Trost2022 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.
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