NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=) AND Hereditary antithrombin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003640215.1
Allele description [Variation Report for NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)]
NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)
Condition(s)
- Name:
- Hereditary antithrombin deficiency
- Synonyms:
- Antithrombin III deficiency; Thrombophilia due to antithrombin III deficiency; Reduced antithrombin III activity; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013144; MedGen: C0272375; OMIM: 613118; Human Phenotype Ontology: HP:0001976
Assertion and evidence details
Last Updated: Feb 28, 2024