Variant (rsID / SNP)

rs104893830

rs104893830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,188,245. 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: 3:10188245
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.388G>C (p.Val130Leu)
Allele change: Silent

Associated conditions / phenotypes

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