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Variant (rsID / SNP)

rs200885420

VHL

rs200885420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,766. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VHLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:10183766
Cytoband
3p25.3
HGVS
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)
Allele change
Missense_R79C

Associated conditions / phenotypes

Polycythemia|Von Hippel-Lindau syndrome|Chuvash polycythemia|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.