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Results for "PSMD6"

Variant Events: 7

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
PSMD6     2-1444-003chr3:
64050707-64050707
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
PSMD6     3-0393-000chr3:
63996422-63996422
CTexonicDe novostopgainNM_001271780
NM_001271781
NM_014814
NM_001271779
c.G978A
c.G975A
c.G1092A
c.G1251A
p.W326X
p.W325X
p.W364X
p.W417X
37.0-Tammimies2015 E
PSMD6     AU1933302chr3:
64027424-64027424
GAintergenicDe novo--Yuen2017 G
PSMD6     EGAN00001101049chr3:
64005096-64005096
GAexonicDe novononsynonymous SNVNM_001271780
NM_001271781
NM_014814
NM_001271779
c.C259T
c.C256T
c.C373T
c.C532T
p.R87C
p.R86C
p.R125C
p.R178C
25.21.648E-5Satterstrom2020 E
PSMD6     AU2863302chr3:
64041759-64041759
GTintergenicDe novo--Yuen2017 G
PSMD6     147-06-105672chr3:
64008429-64008429
GCexonicDe novononsynonymous SNVNM_001271779c.C194Gp.S65C11.85-Satterstrom2020 E
PSMD6     2-0145-003chr3:
64040016-64040016
GAintergenicDe 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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