ABCA4 c.2953G>A ;(p.G985R)

Variant ID: 1-94510266-C-T

NM_000350.2(ABCA4):c.2953G>A;(p.G985R)

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:

Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology
García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM
Publication Date: 2021

Variant appearance in text: ABCA4: 2953G>A
PubMed Link: 34327195
Variant Present in the following documents:
  • Main text
  • fcell-09-645600.pdf
View BVdb publication page