Variant (rsID / SNP)

rs869025624

rs869025624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,823. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VHLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 3:10183823
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.293dup (p.Tyr98Ter)

Associated conditions / phenotypes

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.