ABCA1 c.3112C>T ;(p.Q1038*)

Variant ID: 9-107581996-G-A

NM_005502.3(ABCA1):c.3112C>T;(p.Q1038*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins.

Arteriosclerosis, Thrombosis, And Vascular Biology
Bochem, Andrea E AE; van der Valk, Fleur M FM; Tolani, Sonia S; Stroes, Erik S ES; Westerterp, Marit M; Tall, Alan R AR
Publication Date: 2015-07

Variant appearance in text: ABCA1: Gln1038Ter
PubMed Link: 26109739
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease.

Jimd Reports
Brunham, Liam R LR; Kang, Martin H MH; Van Karnebeek, Clara C; Sadananda, Singh N SN; Collins, Jennifer A JA; Zhang, Lin-Hua LH; Sayson, Bryan B; Miao, Fudan F; Stockler, Sylvia S; Frohlich, Jiri J; Cassiman, David D; Rabkin, Simon W SW; Hayden, Michael R MR
Publication Date: 2015

Variant appearance in text: ABCA1: 3112C>T; Gln1038*
PubMed Link: 25308558
Variant Present in the following documents:
  • Main text
View BVdb publication page