Variant (rsID / SNP)
rs146922325
rs146922325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROC. Location: chromosome 2, position 128,183,690. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PROCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:128183690
- Cytoband
- 2q14.3
- HGVS
- NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
- Allele change
- Missense_R189W
Associated conditions / phenotypes
Thrombophilia due to protein C deficiency, autosomal dominant|Reduced protein C activity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.