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Results for "PSMC5"

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
PSMC5     11768_p1chr17:
61908488-61908488
CTexonicDe novononsynonymous SNVNM_001199163
NM_002805
c.C748T
c.C772T
p.R250W
p.R258W
18.469.008E-6Fu2022 E
PSMC5     SP0094075chr17:
61909087-61909087
GAexonicDe novononsynonymous SNVNM_001199163
NM_002805
c.G1060A
c.G1084A
p.V354M
p.V362M
15.41-Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
PSMC5     SP0094267chr17:
61908775-61908775
CGexonicDe novononsynonymous SNVNM_001199163
NM_002805
c.C935G
c.C959G
p.P312R
p.P320R
19.98-Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
PSMC5     PN400103chr17:
61907221-61907221
TAexonicUnknownstopgainNM_001199163
NM_002805
c.T152A
c.T176A
p.L51X
p.L59X
37.0-Leblond2019 E
PSMC5     11768.p1chr17:
61908488-61908488
CTexonicDe novononsynonymous SNVNM_001199163
NM_002805
c.C748T
c.C772T
p.R250W
p.R258W
18.469.008E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PSMC5     SP0105308chr17:
61905189-61905189
TTACTGACUTR5De novo--Fu2022 E
PSMC5     SP0107580chr17:
61908127-61908127
GAintronicDe novo--Trost2022 G
PSMC5     SSC03344chr17:
61908488-61908488
CTexonicnonsynonymous SNVNM_001199163
NM_002805
c.C748T
c.C772T
p.R250W
p.R258W
18.469.008E-6Antaki2022 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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