|
rs121907966
|
|
Tay-Sachs Disease
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
|
rs121907966
|
|
Tay-Sachs Disease
|
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
|
|
Tay-Sachs Disease
|
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
|
|
Tay-Sachs Disease
|
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
|
|
Tay-Sachs Disease
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
|
17237499 |
2007 |
|
rs121907966
|
|
Tay-Sachs Disease
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
|
rs121907966
|
|
Tay-Sachs Disease
|
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
|
|
Tay-Sachs Disease
|
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 |
|
rs772180415
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
|
rs772180415
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
|
23852624 |
2014 |
|
rs772180415
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
"Tay-Sach disease with ""cherry-red spot""--first reported case in Malaysia."
|
22390110 |
2011 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
|
2934978 |
1985 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
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 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
|
22441121 |
2012 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
|
1837283 |
1991 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
|
6236221 |
1984 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Late-onset Tay-Sachs disease presenting as a childhood stutter.
|
19091716 |
2009 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
|
15714079 |
2005 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Structural basis of the GM2 gangliosidosis B variant.
|
14577003 |
2003 |
|
rs28942071
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
|
1827944 |
1991 |
|
rs121907978
|
|
Tay-Sachs Disease
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121907972
|
|
Tay-Sachs Disease
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121907957
|
|
Tay-Sachs Disease
|
T |
0.800 |
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 |
|
rs121907957
|
|
Tay-Sachs Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Three novel mutations in Iranian patients with Tay-Sachs disease.
|
24518553 |
2014 |