LDLR c.898A>T ;(p.R300*)

Variant ID: 19-11218148-A-T

NM_000527.4(LDLR):c.898A>T;(p.R300*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 898A>T; Arg300Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Therapeutic targets of hypercholesterolemia: HMGCR and LDLR.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Ma, Shizhan S; Sun, Wenxiu W; Gao, Ling L; Liu, Shudong S
Publication Date: 2019

Variant appearance in text: rs767618089
PubMed Link: 31686875
Variant Present in the following documents:
  • Main text
  • dmso-12-1543.pdf
View BVdb publication page



Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
Futema, Marta M; Whittall, Ros A RA; Kiley, Amy A; Steel, Louisa K LK; Cooper, Jackie A JA; Badmus, Ebele E; Leigh, Sarah E SE; Karpe, Fredrik F; Neil, H Andrew W HA; , ; Humphries, Steve E SE
Publication Date: 2013-07

Variant appearance in text: LDLR: Arg300*
PubMed Link: 23669246
Variant Present in the following documents:
  • Main text
View BVdb publication page