APOA1 c.605T>C ;(p.L202P)

Variant ID: 11-116706723-A-G

NM_000039.1(APOA1):c.605T>C;(p.L202P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.

Journal Of Lipid Research
Singaraja, Roshni R RR; Tietjen, Ian I; Hovingh, G Kees GK; Franchini, Patrick L PL; Radomski, Chris C; Wong, Kenny K; vanHeek, Margaret M; Stylianou, Ioannis M IM; Lin, Linus L; Wang, Liangsu L; Mitnaul, Lyndon L; Hubbard, Brian B; Winther, Michael M; Mattice, Maryanne M; Legendre, Annick A; Sherrington, Robin R; Kastelein, John J JJ; Akinsanya, Karen K; Plump, Andrew A; Hayden, Michael R MR
Publication Date: 2014-08

Variant appearance in text: APOA1: L202P
PubMed Link: 24891332
Variant Present in the following documents:
  • Main text
View BVdb publication page



In vivo tissue cholesterol efflux is reduced in carriers of a mutation in APOA1.

Journal Of Lipid Research
Holleboom, Adriaan G AG; Jakulj, Lily L; Franssen, Remco R; Decaris, Julie J; Vergeer, Menno M; Koetsveld, Joris J; Luchoomun, Jayraz J; Glass, Alexander A; Hellerstein, Marc K MK; Kastelein, John J P JJ; Hovingh, G Kees GK; Kuivenhoven, Jan Albert JA; Groen, Albert K AK; Turner, Scott M SM; Stroes, Erik S G ES
Publication Date: 2013-07

Variant appearance in text: APOA1: L202P
PubMed Link: 23650622
Variant Present in the following documents:
  • Main text
View BVdb publication page