ABCA4 c.5485C>T ;(p.L1829=)

Variant ID: 1-94476917-G-A

NM_000350.2(ABCA4):c.5485C>T;(p.L1829=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: ABCA4: 5485C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, 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