Variant: rs121908371 

    present in Gene: MCOLN1
    present in Chromosome: 19
    Position on Chromosome: 7528683
    Alleles of this Variant: C/T

rs121908371 in MCOLN1 gene and Mucolipidosis Type IV PMID 21763169 2011 Mucolipidosis type IV: an update.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.