Variant (rsID / SNP)
rs398124526
rs398124526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,119,790. Clinical significance in the table: Pathogenic.
Reference-table entries
FLCNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:17119790
- Cytoband
- 17p11.2
- HGVS
- NM_144997.7(FLCN):c.1203dup (p.Ile402fs)
Associated conditions / phenotypes
Multiple fibrofolliculomas|Familial spontaneous pneumothorax
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.