Variant ID: 1-55505544-C-G

NM_174936.3(PCSK9):c.34C>G;(p.Pro12Ala)

This variant was identified in 2 publications




Publications:


Impact of PPAR-Alpha Polymorphisms-The Case of Metabolic Disorders and Atherosclerosis.

International Journal Of Molecular Sciences
M Ruscica, M Busnelli, E Runfola, A Corsini, CR Sirtori
Publication Date: 2019-09-06

Variant appearance in text: PCSK9: Pro12Ala
PubMed Link: 31489930
Variant Present in the following documents:
  • ijms-20-04378.pdf
View BVdb publication page



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: Pro12Ala
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.34C>G p.Pro12Ala missense_variant 1/12 -
ENST00000452118.2 c.34C>G p.Pro12Ala missense_variant 1/6 -
NM_174936.4 c.34C>G p.Pro12Ala missense_variant 1/12 -
- - TF_binding_site_variant - -