rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
|
27682588 |
2016 |
rs121907954
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
|
27896118 |
2014 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
|
22723944 |
2012 |
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
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
rs121907954
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
|
15714079 |
2005 |
rs121907954
|
|
|
0.830 |
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 |
rs121907954
|
|
|
0.830 |
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 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
|
9150157 |
1997 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
|
9338583 |
1997 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
|
9401008 |
1997 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Over 72 mutations have been identified in the HEXA gene of which only four (T538C, A590C, G805A, and C1495T) are believed to cause a chronic form of Tay-Sachs disease (TSD).
|
9272736 |
1997 |
rs121907954
|
|
|
0.830 |
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 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
|
8581357 |
1995 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
|
7717398 |
1995 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
|
7951261 |
1994 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Molecular genetics of Tay-Sachs disease in Japan.
|
7837766 |
1994 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Molecular analysis of the Hex A gene (HEXA) of Ashkenazi Jewish individuals affected with Tay-Sachs disease revealed that three common mutations cause the infantile and adult onset forms of the disease; a four base insertion in exon 11, a splice junction mutation in intron 12 and a point mutation in exon 7 (G269S).
|
8343225 |
1993 |
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
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
|
8445615 |
1993 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel Tay-Sachs disease mutations from China.
|
1301190 |
1992 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
|
1302612 |
1992 |
rs121907954
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The intron 7 + 1 mutation occurs in the base adjacent to the site of the adult-onset TSD mutation (G805A).
|
1483696 |
1992 |