present in Gene: HEXA
present in Chromosome: 15
Position on Chromosome: 72348075
Alleles of this Variant: TTGA/-
rs1057516755 in
HEXA gene and
Tay-Sachs Disease
PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.