Variant: rs121907964 

    present in Gene: HEXA-AS1;HEXA
    present in Chromosome: 15
    Position on Chromosome: 72375895
    Alleles of this Variant: C/T

rs121907964 in HEXA-AS1;HEXA gene and Tay-Sachs Disease PMID 21567908 2011 GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

PMID 21967858 2011 Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

PMID 25606403 2014 The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

PMID 1384323 1992 A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.