NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) AND Reduced protein C activity
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000851673.1
Allele description [Variation Report for NM_000312.4(PROC):c.1237A>G (p.Thr413Ala)]
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala)
Condition(s)
- Name:
- Reduced protein C activity
- Identifiers:
- MeSH: D020151; MedGen: C0398625; Human Phenotype Ontology: HP:0005543
Assertion and evidence details
Last Updated: Sep 29, 2024