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Results for "PSMD1"

Variant Events: 10

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
PSMD1     1045chr2:
232027466-232027466
AGintronicDe novo--Trost2022 G
PSMD1     More2023:19chr2:
232010978-232010978
AGexonicInheritednonsynonymous SNVNM_001191037
NM_002807
c.A2023G
c.A2023G
p.M675V
p.M675V
19.531.0E-4More2023 G
PSMD1     MSSNG00031-003chr2:
232011978-232011978
GAintronicDe novo--Trost2022 G
PSMD1     1045chr2:
232027455-232027455
CGintronicDe novo--Trost2022 G
PSMD1     1-0043-004chr2:
231947376-231947376
GAintronicDe novo--Trost2022 G
Yuen2017 G
PSMD1     1024chr2:
232006633-232006633
GAintronicDe novo--Trost2022 G
PSMD1     7-0303-003chr2:
232010910-232010910
AGintronicDe novo--Trost2022 G
PSMD1     2-1719-003chr2:
231935338-231935338
ATintronicDe novo--Yuen2017 G
PSMD1     MSSNG00106-003chr2:
231945229-231945229
GAintronicDe novo--Trost2022 G
PSMD1     3-0713-000chr2:
231953598-231953598
AGintronicDe novo--Trost2022 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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