Variant (rsID / SNP)
rs74405673
rs74405673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,663,902. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FHConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:241663902
- Cytoband
- 1q43
- HGVS
- NM_000143.4(FH):c.1237-12A>T
- Allele change
- Silent
Associated conditions / phenotypes
Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
