Variant (rsID / SNP)

rs398124541

rs398124541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,122,502. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FLCNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:17122502
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.890_893del (p.Glu297fs)

Associated conditions / phenotypes

Multiple fibrofolliculomas|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.