Variant (rsID / SNP)
rs104894107
rs104894107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FXN. Location: chromosome 9, position 71,679,858. 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
- 9:71679858
- Cytoband
- 9q21.11
- HGVS
- NM_000144.5(FXN):c.389G>T (p.Gly130Val)
- Allele change
- Missense_G130V
Associated conditions / phenotypes
Friedreich ataxia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.