Variant (rsID / SNP)

rs104893827

rs104893827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,719. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VHLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:10183719
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
Allele change: Missense_L63P

Associated conditions / phenotypes

Pheochromocytoma|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.