rs121907954
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
|
20363167 |
2010 |
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
|
15714079 |
2005 |
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
|
8328462 |
1993 |
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
|
2220809 |
1990 |
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
|
2522679 |
1989 |
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
As previously reported, the c.533G>A (p.R178H) mutation was present either in homozygosity or as compound heterozygote, in all the patients with the late onset TSD form (B1 Variant); the allele frequency in this group is discussed by comparison with that found in infantile TSD.
|
16088929 |
2005 |
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
|
1831451 |
1991 |
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
|
1832817 |
1991 |
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Mutation in GM2-gangliosidosis B1 variant.
|
2961848 |
1988 |
rs28941770
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
rs121907966
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
rs121907966
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
|
17237499 |
2007 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
|
17015493 |
2006 |
rs121907966
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
|
16088929 |
2005 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
|
16088929 |
2005 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
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.
|
14566483 |
2003 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
rs121907966
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
|
1532289 |
1992 |
rs121907966
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
|
1532289 |
1992 |