Variant (rsID / SNP)

rs142288285

rs142288285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,117,150. 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: 17:17117150
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.1559A>G (p.Lys520Arg)
Allele change: Missense_K520R

Associated conditions / phenotypes

Multiple fibrofolliculomas|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.