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Results for "PSMD2"

Variant Events: 8

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
PSMD2     08C75637chr3:
184025334-184025334
GCintronicDe novo--Satterstrom2020 E
Trost2022 G
PSMD2     111289chr3:
184017657-184017657
CTexonicnonsynonymous SNVNM_002808c.C154Tp.L52F28.51.647E-5Woodbury-Smith2022 E
PSMD2     12358.p1chr3:
184017111-184017111
GGGexonicDe novoframeshift insertionNM_002808c.57dupGp.A19fs--Ji2016 E
PSMD2     MSSNG00168-003chr3:
184019617-184019617
GAintronicDe novo-2.478E-5Trost2022 G
PSMD2     AU3053302chr3:
184023442-184023442
CGintronicDe novo--Trost2022 G
Yuen2017 G
PSMD2     AU058105chr3:
184029182-184029182
TCintergenicDe novo--Yuen2017 G
PSMD2     2-1178-003chr3:
184025334-184025334
GCintronicDe novo--Yuen2017 G
PSMD2     14019.p1chr3:
184025732-184025732
CTexonicnonsynonymous SNVNM_001278708
NM_001278709
NM_002808
c.C1963T
c.C1876T
c.C2353T
p.R655W
p.R626W
p.R785W
24.31.647E-5Zhou2022 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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