ABCA4 c.5877T>A ;(p.C1959*)

Variant ID: 1-94473812-A-T

NM_000350.2(ABCA4):c.5877T>A;(p.C1959*)

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:

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021

Variant appearance in text: ABCA4: 5877T>A
PubMed Link: 33841504
Variant Present in the following documents:
  • Main text
  • fgene-12-646058.pdf
  • Data_Sheet_2.xlsx, sheet 2
View BVdb publication page