|
rs121907957
|
|
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
|
|
Tay-Sachs Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Three novel mutations in Iranian patients with Tay-Sachs disease.
|
24518553 |
2014 |
|
rs121907957
|
|
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
|
|
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
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
|
rs121907957
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Tay-Sachs Disease
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
|
9338583 |
1997 |
|
rs121907957
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
|
9150157 |
1997 |
|
rs121907957
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
|
9401008 |
1997 |
|
rs121907957
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
|
9338583 |
1997 |
|
rs121907957
|
|
Tay-Sachs Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
|
9338583 |
1997 |
|
rs121907957
|
|
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
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
|
8581357 |
1995 |
|
rs121907957
|
|
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
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetics of Tay-Sachs disease in Japan.
|
7837766 |
1994 |
|
rs121907957
|
|
Tay-Sachs Disease
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular epidemiology of Tay-Sachs disease in Europe.
|
7858168 |
1994 |
|
rs121907957
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
|
7951261 |
1994 |
|
rs121907957
|
|
Tay-Sachs Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
|
rs121907957
|
|
Tay-Sachs Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
|
rs121907957
|
|
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
|
|
Tay-Sachs Disease
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
|
1322637 |
1992 |