Variant: rs137853138

present in Gene: CRB1 present in Chromosome: 1 Position on Chromosome: 197328835 Alleles of this Variant: G/A

rs137853138 in CRB1 gene and Pigmented Paravenous Chorioretinal Atrophy PMID 15623792 2005 A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype.