Variant ID: 1-55509582-G-T


This variant was identified in 1 publication


Lipoprotein(a) Cellular Uptake Ex Vivo and Hepatic Capture In Vivo Is Insensitive to PCSK9 Inhibition With Alirocumab.

Jacc. Basic To Translational Science
K Chemello, S Beeské, TT Trang Tran, V Blanchard, EF Villard, B Poirier, JC Le Bail, G Dargazanli, S Ho-Van-Guimbal, D Boulay, O Bergis, MP Pruniaux, M Croyal, P Janiak, E Guillot, G Lambert
Publication Date: 2020-06

Variant appearance in text: PCSK9: E92X
PMID: 32613143
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.274G>T p.Glu92* stop_gained 2/12 -
ENST00000452118.2 c.274G>T p.Glu92* stop_gained 2/6 -
ENST00000543384.1 c.-78+3506G>T - intron_variant - 1/9
NM_174936.4 c.274G>T p.Glu92* stop_gained 2/12 -
NR_110451.1 n.182+3506G>T - intron_variant,non_coding_transcript_variant - 1/9