ABCA1 c.5094C>A ;(p.Y1698*)

Variant ID: 9-107560729-G-T

NM_005502.3(ABCA1):c.5094C>A;(p.Y1698*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Frontiers In Neurology
Ceccanti, Marco M; Cambieri, Chiara C; Frasca, Vittorio V; Onesti, Emanuela E; Biasiotta, Antonella A; Giordano, Carla C; Bruno, Sabina M SM; Testino, Giancarlo G; Lucarelli, Marco M; Arca, Marcello M; Inghilleri, Maurizio M
Publication Date: 2016

Variant appearance in text: ABCA1: 5094C>A; Y1698X
PubMed Link: 27853448
Variant Present in the following documents:
  • Main text
  • fneur-07-00185.pdf
View BVdb publication page