Variant (rsID / SNP)
rs142934950
rs142934950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,124,804. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FLCNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:17124804
- Cytoband
- 17p11.2
- HGVS
- NM_144997.7(FLCN):c.871+47G>A
- Allele change
- Silent
Associated conditions / phenotypes
Multiple fibrofolliculomas|Colorectal cancer|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
