Variant: rs587777487

present in Gene: CEP83 present in Chromosome: 12 Position on Chromosome: 94333527 Alleles of this Variant: C/G;T

rs587777487 in CEP83 gene and NEPHRONOPHTHISIS 18 PMID 24882706 2014 Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.