Variant (rsID / SNP)
rs5030820
rs5030820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,506. Clinical significance in the table: Pathogenic.
Reference-table entries
VHLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:10191506
- Cytoband
- 3p25.3
- HGVS
- NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
- Allele change
- Missense_R126W
Associated conditions / phenotypes
Von Hippel-Lindau syndrome|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Renal cell carcinoma, papillary, 1|Von Hippel-Lindau syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Pheochromocytoma|Nonpapillary renal cell carcinoma|Chuvash polycythemia|Nonpapillary renal cell carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.