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Variant (rsID / SNP)

rs397516440

VHL

rs397516440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,850. 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
3:10183850
Cytoband
3p25.3
HGVS
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
Allele change
Missense_R107G

Associated conditions / phenotypes

Von Hippel-Lindau syndrome|Pheochromocytoma|Von Hippel-Lindau syndrome|Nonpapillary renal cell carcinoma|Chuvash polycythemia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.