Variant: rs113019349

present in Gene: TPP1 present in Chromosome: 11 Position on Chromosome: 6616004 Alleles of this Variant: C/G;T

rs113019349 in TPP1 gene and Neuronal Ceroid-Lipofuscinoses PMID 10330339 1999 Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.