NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) AND Hereditary antithrombin deficiency
- Germline classification:
- Uncertain significance (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:
- RCV000851889.1
Allele description [Variation Report for NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)]
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)
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: Apr 23, 2022