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Variant (rsID / SNP)

rs199643834

FLCN

rs199643834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,118,314. 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
17:17118314
Cytoband
17p11.2
HGVS
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
Allele change
Missense_K508R

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.