Variant (rsID / SNP)
rs876658390
rs876658390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,131,393. Clinical significance in the table: Pathogenic.
Reference-table entries
FLCNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:17131393
- Cytoband
- 17p11.2
- HGVS
- NM_144997.7(FLCN):c.59del (p.Phe20fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Multiple fibrofolliculomas
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.