Variant: rs104894385

present in Gene: FBXL3;CLN5 present in Chromosome: 13 Position on Chromosome: 76992176 Alleles of this Variant: G/A;T

rs104894385 in FBXL3;CLN5 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 5 PMID 10953198 2000 Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).

PMID 12134079 2002 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.