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Variant (rsID / SNP)

rs879255678

FLCN

rs879255678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,118,502. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLCNPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:17118502
Cytoband
17p11.2
HGVS
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
Allele change
Nonsense_R477X

Associated conditions / phenotypes

Multiple fibrofolliculomas|Hereditary cancer-predisposing syndrome|Familial spontaneous pneumothorax|Potocki-Lupski syndrome|Carcinoma of colon|Multiple fibrofolliculomas|Nonpapillary renal cell carcinoma

Public references

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