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Variant ID: 1-55524312-C-T
NM_174936.3(
PCSK9
):c.1495C>T;(p.R499C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.
Chonnam Medical Journal
Kim, Hee Nam HN; Kweon, Sun-Seog SS; Shin, Min-Ho MH
Publication Date: 2018-01
Variant appearance in text: PCSK9: Arg499Cys
PubMed Link:
29399563
Variant Present in the following documents:
Main text
View BVdb publication page
Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.
Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017
Variant appearance in text: PCSK9: R499C; rs201395805
PubMed Link:
29036232
Variant Present in the following documents:
Main text
View BVdb publication page