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Variant (rsID / SNP)

rs5030802

VHL

rs5030802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,739. 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
3:10183739
Cytoband
3p25.3
HGVS
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
Allele change
Missense_E70K

Associated conditions / phenotypes

Von Hippel-Lindau syndrome|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia

Public references

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