Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs150752548

FLCN

rs150752548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,120,410. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FLCNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:17120410
Cytoband
17p11.2
HGVS
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
Allele change
Synonymous_L383L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Multiple fibrofolliculomas

Public references

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