Variant: rs200826424

present in Gene: RCBTB1 present in Chromosome: 13 Position on Chromosome: 49549530 Alleles of this Variant: G/A

rs200826424 in RCBTB1 gene and RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES PMID 27486781 2016 Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

rs200826424 in RCBTB1 gene and Retinitis Pigmentosa PMID 27486781 2016 Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.