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Variant (rsID / SNP)

rs61751286

VWF

rs61751286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,085,324. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

VWFPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:6085324
Cytoband
12p13.31
HGVS
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
Allele change
Missense_R2464C

Associated conditions / phenotypes

von Willebrand disorder|Thrombocytopenia|Abnormal bleeding|von Willebrand disease type 1

Public references

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