Variant (rsID / SNP)

rs398124542

rs398124542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,122,440. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLCNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 17:17122440
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)

Associated conditions / phenotypes

Multiple fibrofolliculomas|Hereditary cancer-predisposing syndrome|Familial spontaneous pneumothorax

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.