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Results for "HECTD3"

Variant Events: 9

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
HECTD3     AU210Achr1:
45470527-45470527
GTintronicDe novo--Satterstrom2020 E
Trost2022 G
HECTD3     AU2693301chr1:
45476223-45476223
CAexonicsynonymous SNVNM_024602c.G525Tp.V175V--Zhou2022 GE
HECTD3     111309chr1:
45473928-45473928
GAexonicnonsynonymous SNVNM_024602c.C1304Tp.T435I26.88.293E-6Woodbury-Smith2022 E
HECTD3     iHART1880chr1:
45469594-45469594
AAGexonicPaternalframeshift insertionNM_024602c.2361dupCp.F788fs--Ruzzo2019 G
HECTD3     AC04-0030-01chr1:
45470253-45470253
AGintronicDe novo-2.485E-5Kosmicki2017 E
HECTD3     mAGRE4143chr1:
45470329-45470329
GTexonicDe novononsynonymous SNVNM_024602c.C2085Ap.D695E17.06-Cirnigliaro2023 G
HECTD3     mAGRE1880chr1:
45469594-45469594
AAGexonicPaternalframeshift insertionNM_024602c.2361dupCp.F788fs--Cirnigliaro2023 G
HECTD3     2-0286-004chr1:
45476258-45476261
GCCGCTTCexonicDe novononframeshift substitutionNM_024602c.487_490GAAGN/A--Trost2022 G
HECTD3     08C75910chr1:
45476223-45476223
CAexonicDe novosynonymous SNVNM_024602c.G525Tp.V175V--Fu2022 E
Satterstrom2020 E
Trost2022 G
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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