LDLR c.2560A>G ;(p.S854G)

Variant ID: 19-11241969-A-G

NM_000527.4(LDLR):c.2560A>G;(p.S854G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Arquivos Brasileiros De Cardiologia
Jannes, Cinthia Elim CE; Silvino, Júnea Paolucci Paiva JPP; Silva, Pãmela Rodrigues de Souza PRS; Lima, Isabella Ramos IR; Tada, Mauricio Teruo MT; Oliveira, Theo Gremen Mimary TGM; Santos, Raul D RD; Krieger, José Eduardo JE; Pereira, Alexandre da Costa ADC
Publication Date: 2022-04

Variant appearance in text: LDLR: Ser854Gly
PubMed Link: 35137788
Variant Present in the following documents:
  • 0066-782X-abc-118-04-0669.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: rs1135402786
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page