ABCA4 c.5487G>A ;(p.L1829=)

Variant ID: 1-94476915-C-T

NM_000350.2(ABCA4):c.5487G>A;(p.L1829=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: ABCA4: 5487G>A; L1829L
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American Journal Of Human Genetics
Rivera, A A; White, K K; Stöhr, H H; Steiner, K K; Hemmrich, N N; Grimm, T T; Jurklies, B B; Lorenz, B B; Scholl, H P HP; Apfelstedt-Sylla, E E; Weber, B H BH
Publication Date: 2000-10

Variant appearance in text: STGD: L1829L
PubMed Link: 10958763
Variant Present in the following documents:
  • Main text
View BVdb publication page