Variant (rsID / SNP)
rs398124529
rs398124529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,118,313. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FLCNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:17118313
- Cytoband
- 17p11.2
- HGVS
- NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
Associated conditions / phenotypes
Multiple fibrofolliculomas
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.