Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs104893826

VHL

rs104893826 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,183,722. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

VHLPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:10183722
Cytoband
3p25.3
HGVS
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
Allele change
Missense_R64P

Associated conditions / phenotypes

Pheochromocytoma|Hereditary cancer-predisposing syndrome|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|Chuvash polycythemia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.