Variant (rsID / SNP)
rs121964894
rs121964894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,145,654. Clinical significance in the table: Pathogenic.
Reference-table entries
VWFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:6145654
- Cytoband
- 12p13.31
- HGVS
- NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)
- Allele change
- Missense_R816W
Associated conditions / phenotypes
von Willebrand disease type 2N|von Willebrand disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.