Variant (rsID / SNP)

rs61751296

rs61751296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,078,503. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VWFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:6078503
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)
Allele change: Nonsense_R2535X

Associated conditions / phenotypes

von Willebrand disease type 3|von Willebrand disorder|von Willebrand disease type 1

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.