ABCA4 c.1957_1959delinsGAG ;(p.R653E)

Variant ID: 1-94526294-GCG-CTC

NM_000350.2(ABCA4):c.1957_1959delinsGAG;(p.R653E)

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:

Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences
Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS
Publication Date: 2020-12-27

Variant appearance in text: ABCA4: R653E
PubMed Link: 33375396
Variant Present in the following documents:
  • Main text
  • ijms-22-00185.pdf
View BVdb publication page