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Variant (rsID / SNP)

rs141858334

FXN

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.