ABCA4 c.658del ;(p.R220Afs*21)

Variant ID: 1-94564460-CG-C

NM_000350.2(ABCA4):c.658del;(p.R220Afs*21)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

The British Journal Of Ophthalmology
Boon, Camiel J F CJ; van Schooneveld, Mary J MJ; den Hollander, Anneke I AI; van Lith-Verhoeven, Janneke J C JJ; Zonneveld-Vrieling, Marijke N MN; Theelen, Thomas T; Cremers, Frans P M FP; Hoyng, Carel B CB; Klevering, B Jeroen BJ
Publication Date: 2007-11

Variant appearance in text: STGD1: 658delC
PubMed Link: 17504850
Variant Present in the following documents:
  • Main text
View BVdb publication page