rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
27682588
2016
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
GeneticVariation
CLINVAR
Three novel mutations in Iranian patients with Tay-Sachs disease.
24518553
2014
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
22723944
2012
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Carrier screening in individuals of Ashkenazi Jewish descent.
18197057
2008
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
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
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
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
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
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
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
CausalMutation
CLINVAR
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
10083731
1999
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
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
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
CausalMutation
CLINVAR
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
9338583
1997
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
9150157
1997
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
9401008
1997
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
9338583
1997
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
GeneticVariation
CLINVAR
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
9338583
1997
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
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
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
8581357
1995
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
7717398
1995
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Molecular genetics of Tay-Sachs disease in Japan.
7837766
1994
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
CausalMutation
CLINVAR
Molecular epidemiology of Tay-Sachs disease in Europe.
7858168
1994
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
7951261
1994
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
8490625
1993
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
GeneticVariation
CLINVAR
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
8490625
1993
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
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
rs121907957
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
T
0.800
CausalMutation
CLINVAR
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
1322637
1992