Variant ID: 1-55518070-C-T

NM_174936.3(PCSK9):c.643C>T;(p.Arg215Cys)

This variant was identified in 1 publication




Publications:


Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
Publication Date: 2015

Variant appearance in text: PCSK9: 643C>T; R215C
PMID: 25962062
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.643C>T p.Arg215Cys missense_variant 4/12 -
ENST00000452118.2 c.*287C>T - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1464C>T - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.43C>T p.Arg15Cys missense_variant 2/10 -
NM_174936.4 c.643C>T p.Arg215Cys missense_variant 4/12 -
NR_110451.1 n.302C>T - non_coding_transcript_exon_variant 2/10 -