Variant (rsID / SNP)
rs5030824
rs5030824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,569. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
VHLConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:10191569
- Cytoband
- 3p25.3
- HGVS
- NM_000551.4(VHL):c.562C>G (p.Leu188Val)
- Allele change
- Missense_L147V
Associated conditions / phenotypes
Von Hippel-Lindau syndrome|Pheochromocytoma|Chuvash polycythemia|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.