LDLR c.1693G>C ;(p.G565R)

Variant ID: 19-11226876-G-C

NM_000527.4(LDLR):c.1693G>C;(p.G565R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Arteriosclerosis, Thrombosis, And Vascular Biology
Bruckert, Eric E; Caprio, Sonia S; Wiegman, Albert A; Charng, Min-Ji MJ; Zárate-Morales, Cézar A CA; Baccara-Dinet, Marie T MT; Manvelian, Garen G; Ourliac, Anne A; Scemama, Michel M; Daniels, Stephen R SR
Publication Date: 2022-12

Variant appearance in text: LDLR: Gly565Arg
PubMed Link: 36325897
Variant Present in the following documents:
  • atv-42-1447-s001.pdf
View BVdb publication page



Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01

Variant appearance in text: LDLR: G565R
PubMed Link: 33994402
Variant Present in the following documents:
  • jat-29-639.pdf
View BVdb publication page