Variant: rs121907982 

    present in Gene: HEXB
    present in Chromosome: 5
    Position on Chromosome: 74718921
    Alleles of this Variant: A/C

rs121907982 in HEXB gene and Sandhoff Disease PMID 8950198 1996 Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

PMID 9694901 1998 A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PMID 1720305 1991 Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

PMID 7557963 1995 A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

PMID 8357844 1993 Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

PMID 9401004 1997 Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

PMID 7626071 1995 A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.

PMID 9856491 1998 Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

PMID 1531140 1992 A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

PMID 7633435 1995 A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.