ABCA1 c.1918A>T ;(p.M640L)

Variant ID: 9-107591394-T-A

NM_005502.3(ABCA1):c.1918A>T;(p.M640L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

Plos One
Tietjen, Ian I; Hovingh, G Kees GK; Singaraja, Roshni R RR; Radomski, Chris C; Barhdadi, Amina A; McEwen, Jason J; Chan, Elden E; Mattice, Maryanne M; Legendre, Annick A; Franchini, Patrick L PL; Dubé, Marie-Pierre MP; Kastelein, John J P JJ; Hayden, Michael R MR
Publication Date: 2012

Variant appearance in text: ABCA1: M640L
PubMed Link: 22952570
Variant Present in the following documents:
  • Main text
  • pone.0037437.pdf
View BVdb publication page