Variant (rsID / SNP)
rs758175953
rs758175953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,125,814. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FLCNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:17125814
- Cytoband
- 17p11.2
- HGVS
- NM_144997.7(FLCN):c.779+1G>T
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Multiple fibrofolliculomas|Multiple fibrofolliculomas|Potocki-Lupski syndrome|Nonpapillary renal cell carcinoma|Familial spontaneous pneumothorax|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.