Variant: rs121907984 

    present in Gene: HEXB;GFM2
    present in Chromosome: 5
    Position on Chromosome: 74721131
    Alleles of this Variant: G/A

rs121907984 in HEXB;GFM2 gene and Sandhoff Disease PMID 1720305 1991 Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron 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 1531140 1992 A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

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

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

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

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.