Variant ID: 1-55505632-T-A


This variant was identified in 1 publication


Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: PCSK9: 122T>A; Leu41Gln
PMID: 26802169
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.122T>A p.Leu41Gln missense_variant 1/12 -
ENST00000452118.2 c.122T>A p.Leu41Gln missense_variant 1/6 -
NM_174936.4 c.122T>A p.Leu41Gln missense_variant 1/12 -