rs104894105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
|
9150176 |
1997 |
rs104894105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
|
10732799 |
1998 |
rs104894105
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
|
10874325 |
2000 |
rs104894105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
|
9989622 |
1999 |
rs104894105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
|
19629184 |
2009 |
rs104894105
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
|
9779809 |
1998 |
rs104894106
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
|
10874325 |
2000 |
rs104894106
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104894106
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The point mutations I154F and W155R in frataxin cause FRDA and are clustered to one surface of the protein, and these mutations decrease the interaction of frataxin with ISD11.
|
17331979 |
2007 |
rs104894106
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
|
9989622 |
1999 |
rs104894106
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
|
19629184 |
2009 |
rs104894106
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
|
9150176 |
1997 |
rs104894106
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
|
10732799 |
1998 |
rs104894106
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
|
9779809 |
1998 |
rs104894107
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
|
9779809 |
1998 |
rs104894107
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
|
10732799 |
1998 |
rs104894107
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
|
9989622 |
1999 |
rs104894107
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894107
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
|
19629184 |
2009 |
rs104894107
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
|
10874325 |
2000 |
rs104894107
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
|
9150176 |
1997 |
rs104894108
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs138034837
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report three Turkish siblings from consanguineous parents presenting with a CMT-like phenotype who carry a homozygous c.493C>T, p.Arg165Cys mutation in the FXN gene that is the only known causative gene for Friedreich's ataxia (FRDA).
|
31673878 |
2020 |
rs138034837
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|