LDLR c.806G>T ;(p.G269V)

Variant ID: 19-11217352-G-T

NM_000527.4(LDLR):c.806G>T;(p.G269V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M
Publication Date: 2014-12

Variant appearance in text: rs143992984
PubMed Link: 25606447
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: rs143992984
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page