Variant (rsID / SNP)

rs5030828

rs5030828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,785. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VHLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:10183785
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.254T>C (p.Leu85Pro)
Allele change: Missense_L85P

Associated conditions / phenotypes

Neoplasm|Chuvash polycythemia|Von Hippel-Lindau syndrome

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.