Variant ID: 1-55505628-G-A

NM_174936.3(PCSK9):c.118G>A;(p.Glu40Lys)

This variant was identified in 1 publication




Publications:


The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
T Kessler, B Vilne, H Schunkert
Publication Date: 2016-07

Variant appearance in text: PCSK9: E40K
PMID: 27189168
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.118G>A p.Glu40Lys missense_variant 1/12 -
ENST00000452118.2 c.118G>A p.Glu40Lys missense_variant 1/6 -
NM_174936.4 c.118G>A p.Glu40Lys missense_variant 1/12 -