Variant (rsID / SNP)
rs28940298
rs28940298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,605. 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
- 3:10191605
- Cytoband
- 3p25.3
- HGVS
- NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
- Allele change
- Missense_R159W
Associated conditions / phenotypes
Chuvash polycythemia|Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Chuvash polycythemia|Von Hippel-Lindau syndrome|Acute leukemia of ambiguous lineage|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.