Variant (rsID / SNP)

rs190786280

rs190786280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,122,346. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FLCNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:17122346
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
Allele change: Missense_R350Q

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.