Variant (rsID / SNP)
rs41276738
rs41276738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,143,978. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
VWFPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:6143978
- Cytoband
- 12p13.31
- HGVS
- NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
- Allele change
- Missense_R854Q
Associated conditions / phenotypes
von Willebrand disease type 2N|von Willebrand disease type 1|von Willebrand disorder|von Willebrand disease type 2|von Willebrand disease type 2|von Willebrand disease type 3|von Willebrand disease type 1|Abnormality of coagulation|Thrombocytopenia|Abnormal bleeding
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.