|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A systematic survey of loss-of-function variants in human protein-coding genes.
|
22344438 |
2012 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
|
19858779 |
2010 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A null allele frequent in non-Jewish Tay-Sachs patients.
|
8444467 |
1993 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
|
1301938 |
1992 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
|
1387685 |
1992 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
|
1833974 |
1991 |
|
rs76173977
|
|
Tay-Sachs Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
|
1837283 |
1991 |
|
rs76173977
|
|
Tay-Sachs Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|