ABCA1 c.2903T>C ;(p.M968T)

Variant ID: 9-107583713-A-G

NM_005502.3(ABCA1):c.2903T>C;(p.M968T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Nature Medicine
Rosenson, Robert S RS; Gaudet, Daniel D; Ballantyne, Christie M CM; Baum, Seth J SJ; Bergeron, Jean J; Kershaw, Erin E EE; Moriarty, Patrick M PM; Rubba, Paolo P; Whitcomb, David C DC; Banerjee, Poulabi P; Gewitz, Andrew A; Gonzaga-Jauregui, Claudia C; McGinniss, Jennifer J; Ponda, Manish P MP; Pordy, Robert R; Zhao, Jian J; Rader, Daniel J DJ
Publication Date: 2023-03-06

Variant appearance in text: ABCA1: M968T
PubMed Link: 36879129
Variant Present in the following documents:
  • 41591_2023_2222_MOESM1_ESM.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs776604878
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: ABCA1: 2903T>C; M968T
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page