Variant (rsID / SNP)
rs216321
rs216321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VWF. Location: chromosome 12, position 6,143,984. Clinical significance in the table: Benign.
Reference-table entries
VWFBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:6143984
- Cytoband
- 12p13.31
- HGVS
- NM_000552.5(VWF):c.2555= (p.Gln852=)
- Allele change
- Missense_Q852R
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.