Variant: rs755215402

present in Gene: CTNNA1 present in Chromosome: 5 Position on Chromosome: 138887639 Alleles of this Variant: T/A;C;G

rs755215402 in CTNNA1 gene and Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 PMID 26691986 2016 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.