ABCA1 c.242_300del ;(p.C81Yfs*52)

Variant ID: 9-107646710-TGGATTTGTTAAAGTTTCCAACAACTCCGGGAGCCTCCCCAGGAGTCGGGTAACGGAAAC-T

NM_005502.3(ABCA1):c.242_300del;(p.C81Yfs*52)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dron, Jacqueline S JS; Wang, Jian J; Berberich, Amanda J AJ; Iacocca, Michael A MA; Cao, Henian H; Yang, Ping P; Knoll, Joan J; Tremblay, Karine K; Brisson, Diane D; Netzer, Christian C; Gouni-Berthold, Ioanna I; Gaudet, Daniel D; Hegele, Robert A RA
Publication Date: 2018-08

Variant appearance in text: ABCA1: 160_301del
PubMed Link: 29866657
Variant Present in the following documents:
  • Main text
  • jlrp086280.pdf
View BVdb publication page