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Results for "HSD3B2"

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
HSD3B2     NDAR_INVNX928JZW_wes1chr1:
119964751-119964751
GAexonicDe novosynonymous SNVNM_000198
NM_001166120
c.G627A
c.G627A
p.G209G
p.G209G
--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HSD3B2     1-0526-003chr1:
120025243-120025245
CCTCintergenicDe novo--Yuen2017 G
HSD3B2     1-0384-003chr1:
120045043-120045043
TCintergenicDe novo--Yuen2017 G
HSD3B2     2-1510-003chr1:
119981065-119981065
TAintergenicDe novo--Yuen2017 G
HSD3B2     AU2427302chr1:
120022236-120022236
CTintergenicDe novo--Yuen2017 G
HSD3B2     1237_17auchr1:
119962339-119962339
GCintronicDe novo--Fu2022 E
HSD3B2     4691003270231-Cchr1:
119962291-119962291
TCintronicDe novo--Fu2022 E
HSD3B2     AU3190305chr1:
120034983-120034983
CTintergenicDe novo--Yuen2017 G
HSD3B2     1-0512-003chr1:
119973473-119973486
TACACACACACACATACACACACACAintergenicDe 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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