Variant (rsID / SNP)

rs398123482

rs398123482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,857. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VHLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:10183857
Cytoband: 3p25.3
HGVS: NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
Allele change: Missense_I109N

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.