PCSK9 c.1495C>T ;(p.R499C)

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.




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; rs201395805
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
  • cmj-54-31.pdf
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
  • pone.0186446.pdf
View BVdb publication page