ABCA4 c.6609C>G ;(p.Y2203*)

Variant ID: 1-94463537-G-C

NM_000350.2(ABCA4):c.6609C>G;(p.Y2203*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: ABCA4: Y2203X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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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: Y2203X
PubMed Link: 10958763
Variant Present in the following documents:
  • Main text
View BVdb publication page