Variant (rsID / SNP)
rs141858334
rs141858334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FXN. Location: chromosome 9, position 71,661,314. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FXNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:71661314
- Cytoband
- 9q21.11
- HGVS
- NM_000144.5(FXN):c.179G>A (p.Arg60His)
- Allele change
- Missense_R60H
Associated conditions / phenotypes
Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
