Variant (rsID / SNP)

rs879255683

rs879255683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,117,130. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FLCNPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:17117130
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
Allele change: Nonsense_R527X

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.