Variant: rs121907972 

    present in Gene: HEXA
    present in Chromosome: 15
    Position on Chromosome: 72353130
    Alleles of this Variant: G/A

rs121907972 in HEXA gene and Abnormal thalamic MRI signal intensity PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

rs121907972 in HEXA gene and Developmental regression PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

rs121907972 in HEXA gene and Electroencephalogram abnormal PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

rs121907972 in HEXA gene and Muscle hypotonia PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

rs121907972 in HEXA gene and Tay-Sachs Disease PMID 9401008 1997 Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

PMID 2522679 1989 The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

PMID 7717398 1995 Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

PMID 8581357 1995 GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

PMID 1837283 1991 Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

PMID 9338583 1997 Tay-Sachs disease and HEXA mutations among Moroccan Jews.

PMID 9603435 1998 W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

PMID 8757036 1996 Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

PMID 1302612 1992 A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

PMID 1301190 1992 Novel Tay-Sachs disease mutations from China.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 1301189 1992 A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

PMID 27682588 2016 Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

PMID 14566483 2003 Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

PMID 8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PMID 2970528 1988 A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

PMID 7951261 1994 Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

PMID 7837766 1994 Molecular genetics of Tay-Sachs disease in Japan.

PMID 8490625 1993 Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

rs121907972 in HEXA gene and hearing impairment PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.