rs863225434
×
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
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V .
22723944
2012
rs863225434
×
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
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Carrier screening in individuals of Ashkenazi Jewish descent.
18197057
2008
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
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
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Molecular genetics of Tay-Sachs disease in Japan.
7837766
1994
rs863225434
×
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
rs863225434
×
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
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
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
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
1302612
1992
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Novel Tay-Sachs disease mutations from China.
1301190
1992
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
1837283
1991
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
GeneticVariation
UNIPROT
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
2522679
1989
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
0.800
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
rs863225434
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
Tay-Sachs Disease
A
0.800
CausalMutation
CLINVAR