Variant ID: 1-55505628-G-A

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

This variant was identified in 2 publications




Publications:


Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: PCSK9: Glu40Lys
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



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
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
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 -