LDLR c.1201C>T ;(p.L401F)

Variant ID: 19-11223968-C-T

NM_000527.4(LDLR):c.1201C>T;(p.L401F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: LDLR: L401F; rs146200173
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Keiji K; Mizobuchi, Asako A; Ying Fu, Hai H; Ishikawa, Shohei S; Tada, Hayato H; Kawashiri, Masa-Aki MA; Yokota, Ichiro I; Sasaki, Tsuyoshi T; Ito, Shigeru S; Kunikata, Jun J; Iwase, Takashi T; Hirao, Tomohiro T; Yokoyama, Katsunori K; Hoshikawa, Yoichi Y; Fujisawa, Takuji T; Dobashi, Kazushige K; Kusaka, Takashi T; Minamino, Tetsuo T
Publication Date: 2022-06-01

Variant appearance in text: LDLR: Leu401Phe
PubMed Link: 34176852
Variant Present in the following documents:
  • jat-29-839.pdf
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: LDLR: 1201C>T; Leu401Phe
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2014-02

Variant appearance in text: rs146200173
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page