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Variant (rsID / SNP)

rs786202787

VHL

rs786202787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,769. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

VHLPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:10183769
Cytoband
3p25.3
HGVS
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)
Allele change
Missense_S80G

Associated conditions / phenotypes

Hereditary cancer-predisposing 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.