rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
G
0.830
CausalMutation
CLINVAR
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
27896118
2014
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
22723944
2012
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Carrier screening in individuals of Ashkenazi Jewish descent.
18197057
2008
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.830
CausalMutation
CLINVAR
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
15714079
2005
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
9150157
1997
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
9338583
1997
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
9401008
1997
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
8581357
1995
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
7951261
1994
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Molecular genetics of Tay-Sachs disease in Japan.
7837766
1994
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
8490625
1993
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.830
GeneticVariation
UNIPROT
Novel Tay-Sachs disease mutations from China.
1301190
1992
rs121907954
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
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