Variant (rsID / SNP)

rs750146811

rs750146811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,131,214. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLCNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 17:17131214
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.235_238del (p.Ser79fs)

Associated conditions / phenotypes

Familial spontaneous pneumothorax|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.