Variant: rs121908373 

    present in Gene: MCOLN1;LOC105372261
    present in Chromosome: 19
    Position on Chromosome: 7526505
    Alleles of this Variant: C/T

rs121908373 in MCOLN1;LOC105372261 gene and Mucolipidosis Type IV PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.