Variant: rs121907960 

    present in Gene: HEXA
    present in Chromosome: 15
    Position on Chromosome: 72349148
    Alleles of this Variant: GAA/-

rs121907960 in HEXA gene and Movement Disorders PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 22025593 2011 Natural history of infantile G(M2) gangliosidosis.

PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

PMID 3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

PMID 16199656 2005 ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

PMID 9073025 1997 Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

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.

PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

rs121907960 in HEXA gene and Muscle hypotonia 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.

PMID 16199656 2005 ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease.

PMID 8230592 1993 Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 22025593 2011 Natural history of infantile G(M2) gangliosidosis.

PMID 19330222 2009 Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.

PMID 12108829 2002 Tay-Sachs disease screening and counseling families at risk for metabolic disease.

PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

PMID 9073025 1997 Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

rs121907960 in HEXA gene and Tay-Sachs Disease PMID 1322637 1992 Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.

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.

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

PMID 1825014 1991 Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.