ABCA1 c.6630G>T ;(p.Q2210H)

Variant ID: 9-107547692-C-A

NM_005502.3(ABCA1):c.6630G>T;(p.Q2210H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol
Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A
Publication Date: 2014

Variant appearance in text: ABCA1: Q2210H
PubMed Link: 25215231
Variant Present in the following documents:
  • CHOLESTEROL2014-639751.pdf
View BVdb publication page



Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

Circulation. Cardiovascular Genetics
Reddy, M V Prasad Linga MV; Iatan, Iulia I; Weissglas-Volkov, Daphna D; Nikkola, Elina E; Haas, Blake E BE; Juvonen, Miina M; Ruel, Isabelle I; Ruel, Miina Juvonen Isabelle MJ; Sinsheimer, Janet S JS; Genest, Jacques J; Pajukanta, Päivi P
Publication Date: 2012-10-01

Variant appearance in text: ABCA1: Q2210H
PubMed Link: 22923419
Variant Present in the following documents:
  • Main text
View BVdb publication page