Variant (rsID / SNP)
rs201928951
rs201928951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROS1. Location: chromosome 3, position 93,692,511. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PROS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:93692511
- Cytoband
- 3q11.1
- HGVS
- NM_000313.4(PROS1):c.76+7A>G
- Allele change
- Silent
Associated conditions / phenotypes
Thrombophilia due to protein S deficiency, autosomal recessive|Thrombophilia due to protein S deficiency, autosomal dominant|Protein S deficiency disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
