Variant (rsID / SNP)

rs61750074

rs61750074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,128,449. Clinical significance in the table: Pathogenic.

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Reference-table entries

VWFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:6128449
Cytoband: 12p13.31
HGVS: NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
Allele change: Missense_R1379C

Associated conditions / phenotypes

von Willebrand disorder|von Willebrand disease type 2|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.