Variant ID: 1-55524312-C-T


This variant was identified in 2 publications


Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
HN Kim, SS Kweon, MH Shin
Publication Date: 2018-01

Variant appearance in text: PCSK9: Arg499Cys
PMID: 29399563
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
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2017

Variant appearance in text: PCSK9: R499C; rs201395805
PMID: 29036232
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1495C>T p.Arg499Cys missense_variant 9/12 -
ENST00000490692.1 n.2219C>T - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.*42C>T - 3_prime_UTR_variant 7/10 -
NM_174936.4 c.1495C>T p.Arg499Cys missense_variant 9/12 -
NR_110451.1 n.1102C>T - non_coding_transcript_exon_variant 7/10 -