ABCA4 c.1581C>T ;(p.S527=)

Variant ID: 1-94528847-G-A

NM_000350.2(ABCA4):c.1581C>T;(p.S527=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: ABCA4: 1581C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

Molecular Genetics And Genomics : Mgg
Zangerl, B B; Lindauer, S J SJ; Acland, G M GM; Aguirre, G D GD
Publication Date: 2010-10

Variant appearance in text: ABCA4: 1581C>T; Ser527Ser
PubMed Link: 20661590
Variant Present in the following documents:
  • Main text
View BVdb publication page