Variant ID: 1-55512313-C-T


This variant was identified in 1 publication


Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen
Publication Date: 2019-04-11

Variant appearance in text: PCSK9: 517C>T; Pro173Ser
PMID: 30971288
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.517C>T p.Pro173Ser missense_variant 3/12 -
ENST00000452118.2 c.517C>T p.Pro173Ser missense_variant 3/6 -
ENST00000543384.1 c.-77-5638C>T - intron_variant - 1/9
NM_174936.4 c.517C>T p.Pro173Ser missense_variant 3/12 -
NR_110451.1 n.183-5638C>T - intron_variant,non_coding_transcript_variant - 1/9