ABCA1 c.5843A>G ;(p.N1948S)

Variant ID: 9-107553287-T-C

NM_005502.3(ABCA1):c.5843A>G;(p.N1948S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ABCA1: N1948S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
Stitziel, Nathan O NO; Peloso, Gina M GM; Abifadel, Marianne M; Cefalu, Angelo B AB; Fouchier, Sigrid S; Motazacker, M Mahdi MM; Tada, Hayato H; Larach, Daniel B DB; Awan, Zuhier Z; Haller, Jorge F JF; Pullinger, Clive R CR; Varret, Mathilde M; Rabès, Jean-Pierre JP; Noto, Davide D; Tarugi, Patrizia P; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Yamagishi, Masakazu M; Risman, Marjorie M; Deo, Rahul R; Ruel, Isabelle I; Shendure, Jay J; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Gupta, Namrata N; Farlow, Deborah N DN; Neale, Benjamin M BM; Daly, Mark J MJ; Kane, John P JP; Freeman, Mason W MW; Genest, Jacques J; Rader, Daniel J DJ; Mabuchi, Hiroshi H; Kastelein, John J P JJ; Hovingh, G Kees GK; Averna, Maurizio R MR; Gabriel, Stacey S; Boileau, Catherine C; Kathiresan, Sekar S
Publication Date: 2015-04

Variant appearance in text: ABCA1: N1948S
PubMed Link: 25632026
Variant Present in the following documents:
  • Main text
View BVdb publication page