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PKP1 c.460_462delinsTGA ;(p.R154*)
Variant ID: 1-201282447-CGC-TGA
NM_001005337.2(
PKP1
):c.460_462delinsTGA;(p.R154*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.
American Journal Of Epidemiology
Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP
Publication Date: 2010-10-15
Variant appearance in text: PKP1: Arg154Ter
PubMed Link:
20876667
Variant Present in the following documents:
Main text
View BVdb publication page