Variant (rsID / SNP)
rs397516442
rs397516442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,188,263. Clinical significance in the table: Pathogenic.
Reference-table entries
VHLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 3:10188263
- Cytoband
- 3p25.3
- HGVS
- NM_000551.4(VHL):c.408del (p.Phe136fs)
Associated conditions / phenotypes
Von Hippel-Lindau syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.