Variant (rsID / SNP)

rs5030819

rs5030819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,497. Clinical significance in the table: Pathogenic.

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Reference-table entries

VHLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:10191497
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.490C>T (p.Gln164Ter)
Allele change: Nonsense_Q123X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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