ABCA4 c.5227G>A ;(p.V1743M)

Variant ID: 1-94481380-C-T

NM_000350.2(ABCA4):c.5227G>A;(p.V1743M)

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:

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

Molecular Genetics And Genomics : Mgg
Zangerl, B B; Lindauer, S J SJ; Acland, G M GM; Aguirre, G D GD
Publication Date: 2010-10

Variant appearance in text: ABCA4: 5227G>A
PubMed Link: 20661590
Variant Present in the following documents:
  • Main text
View BVdb publication page