Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs78683075

FLCN

rs78683075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,125,879. 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
17:17125879
Cytoband
17p11.2
HGVS
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
Allele change
Missense_R239C

Associated conditions / phenotypes

Multiple fibrofolliculomas|Hereditary cancer-predisposing syndrome|Colorectal cancer

Public references

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