Variant (rsID / SNP)
rs879255677
rs879255677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,118,596. Clinical significance in the table: Pathogenic.
Reference-table entries
FLCNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:17118596
- Cytoband
- 17p11.2
- HGVS
- NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
Associated conditions / phenotypes
Multiple fibrofolliculomas|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.