Variant (rsID / SNP)

rs869025643

rs869025643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,188,231. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VHLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:10188231
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.374A>C (p.His125Pro)
Allele change: Silent

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.