rs104894106
|
|
FRIEDREICH ATAXIA 1
|
|
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 |
rs146818694
|
|
FRIEDREICH ATAXIA 1
|
|
0.720 |
GeneticVariation
|
BEFREE |
The genotypic and phenotypic spectrum of FRDA was similar to other populations, with one patient compound heterozygote for a known point mutation in FXN (Asn146Lys).
|
24209901 |
2014 |
rs146818694
|
|
FRIEDREICH ATAXIA 1
|
|
0.720 |
GeneticVariation
|
BEFREE |
To reinvestigate the mutation spectrum, we searched for mutations including exon deletions in six patients heterozygous for the GAA repeat expansion and found two unknown missense mutations, p.Asn146Lys and p.Leu186Arg, in trans to the expanded FRDA allele.
|
15340363 |
2004 |
rs138471431
|
|
FRIEDREICH ATAXIA 1
|
|
0.710 |
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 |
rs138034837
|
|
FRIEDREICH ATAXIA 1
|
|
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 |
rs148443992
|
|
FRIEDREICH ATAXIA 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
To reinvestigate the mutation spectrum, we searched for mutations including exon deletions in six patients heterozygous for the GAA repeat expansion and found two unknown missense mutations, p.Asn146Lys and p.Leu186Arg, in trans to the expanded FRDA allele.
|
15340363 |
2004 |
rs143396368
|
|
FRIEDREICH ATAXIA 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
p.R165P patients progress to a less disabling disease state than typical FRDA.
|
24816001 |
2014 |
rs104894106
|
|
FRIEDREICH ATAXIA 1
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs104894107
|
|
FRIEDREICH ATAXIA 1
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs104894105
|
|
FRIEDREICH ATAXIA 1
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs146818694
|
|
FRIEDREICH ATAXIA 1
|
G |
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
rs886037630
|
|
FRIEDREICH ATAXIA 1
|
TACACCTTGAGGACA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs56214919
|
|
FRIEDREICH ATAXIA 1
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs141935559
|
|
FRIEDREICH ATAXIA 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs140987490
|
|
FRIEDREICH ATAXIA 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs104894108
|
|
FRIEDREICH ATAXIA 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs104894106
|
|
FRIEDREICH ATAXIA 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
|
10874325 |
2000 |
rs104894106
|
|
FRIEDREICH ATAXIA 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
|
9989622 |
1999 |
rs104894106
|
|
FRIEDREICH ATAXIA 1
|
|
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
|
|
FRIEDREICH ATAXIA 1
|
|
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
|
|
FRIEDREICH ATAXIA 1
|
|
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
|
|
FRIEDREICH ATAXIA 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
|
9779809 |
1998 |
rs104894107
|
|
FRIEDREICH ATAXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
|
9779809 |
1998 |
rs104894107
|
|
FRIEDREICH ATAXIA 1
|
|
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
|
|
FRIEDREICH ATAXIA 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
|
9989622 |
1999 |