Variant: rs1184563885

present in Gene: TPP1 present in Chromosome: 11 Position on Chromosome: 6614892 Alleles of this Variant: G/A

rs1184563885 in TPP1 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 2 PMID 10862088 2000 A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.