Variant ID: 1-55524243-C-T

NM_174936.3(PCSK9):c.1426C>T;(p.R476C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06

Variant appearance in text: PCSK9: Arg476Cys
PubMed Link: 34615865
Variant Present in the following documents:
  • 41467_2021_26114_MOESM2_ESM.pdf
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: PCSK9: Arg476Cys
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs761767572
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page