Friedreich Ataxia Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | FXN/2395 | frataxin | 9q21.11 | Chr9, NC_000009.12 (69035752..69079076) |
43325 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |