Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs775624944

VHL

rs775624944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VHL. Location: chromosome 3, position 10,191,646. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

VHLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:10191646
Cytoband
3p25.3
HGVS
NM_000551.4(VHL):c.639T>C (p.Asp213=)
Allele change
Synonymous_D172D

Associated conditions / phenotypes

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

Public references

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