Variant: rs104894105 

    present in Gene: FXN
    present in Chromosome: 9
    Position on Chromosome: 69053193
    Alleles of this Variant: T/C;G

rs104894105 in FXN gene and FRIEDREICH ATAXIA 1 PMID 9150176 1997 Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

PMID 9989622 1999 Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

PMID 10874325 2000 A novel missense mutation (L198R) in the Friedreich's ataxia gene.

PMID 10732799 1998 The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.

PMID 19629184 2009 The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

PMID 9779809 1998 Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.