Variant (rsID / SNP)
rs121918143
rs121918143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROC. Location: chromosome 2, position 128,183,756. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PROCPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:128183756
- Cytoband
- 2q14.3
- HGVS
- NM_000312.4(PROC):c.631C>T (p.Arg211Trp)
- Allele change
- Missense_R211W
Associated conditions / phenotypes
Thrombophilia due to protein C deficiency, autosomal recessive|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.