Gene: FXN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138034837
rs138034837
FXN
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
dbSNP: rs138471431
rs138471431
FXN
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
dbSNP: rs138034837
rs138034837
FXN
0.710 GeneticVariation UNIPROT

dbSNP: rs138471431
rs138471431
FXN
0.710 GeneticVariation UNIPROT

dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. 19629184

2009
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. 19629184

2009
dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622

1999
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622

1999
dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799

1998
dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. 10732799

1998
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998
dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997
dbSNP: rs104894108
rs104894108
FXN
T 0.700 CausalMutation CLINVAR

dbSNP: rs140987490
rs140987490
FXN
G 0.700 CausalMutation CLINVAR

dbSNP: rs141935559
rs141935559
FXN
G 0.700 CausalMutation CLINVAR

dbSNP: rs142157346
rs142157346
FXN
0.700 GeneticVariation UNIPROT

dbSNP: rs56214919
rs56214919
FXN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886037630
rs886037630
FXN
TACACCTTGAGGACA 0.700 CausalMutation CLINVAR

dbSNP: rs143396368
rs143396368
FXN
0.010 GeneticVariation BEFREE p.R165P patients progress to a less disabling disease state than typical FRDA. 24816001

2014
dbSNP: rs148443992
rs148443992
FXN
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