LDLR c.485C>T ;(p.P162L)

Variant ID: 19-11216067-C-T

NM_000527.4(LDLR):c.485C>T;(p.P162L)

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: 485C>T; Pro162Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: P162L
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus
Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R
Publication Date: 2016

Variant appearance in text: LDLR: 485C>T; P162L
PubMed Link: 28028493
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_3763.pdf
View BVdb publication page