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Variant (rsID / SNP)

rs372207262

FLCN

rs372207262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,119,713. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FLCNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:17119713
Cytoband
17p11.2
HGVS
NM_144997.7(FLCN):c.1281C>G (p.Pro427=)
Allele change
Synonymous_P427P

Associated conditions / phenotypes

Familial spontaneous pneumothorax|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.