or
or
Exact

Results for "PKP3"

Variant Events: 4

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
PKP3     Chen2017:67chr11:
396860-396860
CTexonicDe novononsynonymous SNVNM_007183
NM_001303029
c.C359T
c.C404T
p.S120F
p.S135F
16.231.198E-5Chen2017 E
PKP3     200675492@1082035067chr11:
396860-396860
CTexonicDe novononsynonymous SNVNM_007183
NM_001303029
c.C359T
c.C404T
p.S120F
p.S135F
16.231.198E-5Satterstrom2020 E
PKP3     G01-GEA-1-HIchr11:
403185-403185
GAexonicDe novosynonymous SNVNM_007183
NM_001303029
c.G1845A
c.G1890A
p.L615L
p.L630L
--Lim2017 E
PKP3     F5979-1chr11:
397240-397240
GCexonicDe novononsynonymous SNVNM_007183
NM_001303029
c.G739C
c.G784C
p.A247P
p.A262P
27.7-Montenegro2019 E
Source Variant Information

, -

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
More