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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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