ABCA4 c.4340A>T ;(p.E1447V)

Variant ID: 1-94495996-T-A

NM_000350.2(ABCA4):c.4340A>T;(p.E1447V)

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:

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Molecular Vision
Salles, Mariana Vallim MV; Motta, Fabiana Louise FL; Martin, Renan R; Filippelli-Silva, Rafael R; Dias da Silva, Elton E; Varela, Patricia P; Costa, Kárita Antunes KA; Chiang, John PeiWen JP; Pesquero, João Bosco JB; Sallum, Juliana-Maria Ferraz JF
Publication Date: 2018

Variant appearance in text: ABCA4: 4340A>T
PubMed Link: 30093795
Variant Present in the following documents:
  • Main text
  • mv-v24-546.pdf
View BVdb publication page