ABCA4 c.667_678del ;(p.K223_R226del)

Variant ID: 1-94564440-AGCGCACCGTCTT-A

NM_000350.2(ABCA4):c.667_678del;(p.K223_R226del)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Investigative Ophthalmology & Visual Science
Bertelsen, Mette M; Zernant, Jana J; Larsen, Michael M; Duno, Morten M; Allikmets, Rando R; Rosenberg, Thomas T
Publication Date: 2014-04-29

Variant appearance in text: ABCA4: K223_R226del
PubMed Link: 24713488
Variant Present in the following documents:
  • Main text
View BVdb publication page