|
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
|
1301189 |
1992 |
|
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
|
1837283 |
1991 |
|
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
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
|
2522679 |
1989 |
|
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
|
2522679 |
1989 |
|
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
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.
|
2970528 |
1988 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
|
27682588 |
2016 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
|
rs28941770
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
BEFREE |
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 |
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
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 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
|
9603435 |
1998 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
|
9338583 |
1997 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
|
9150157 |
1997 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
|
9401008 |
1997 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
|
8757036 |
1996 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
BEFREE |
A child with late-infantile TSD was found to have two HEXA mutations, 986 + 3A-->G (A-->G at the +3 position of intron 8) and 533G-->A, associated with the variant B1 form of TSD.
|
7551830 |
1995 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
|
7717398 |
1995 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
|
8581357 |
1995 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular genetics of Tay-Sachs disease in Japan.
|
7837766 |
1994 |
|
rs28941770
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
|
7951261 |
1994 |