NM_000488.4(SERPINC1):c.910T>C (p.Leu304=) AND Hereditary antithrombin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001442068.5
Allele description [Variation Report for NM_000488.4(SERPINC1):c.910T>C (p.Leu304=)]
NM_000488.4(SERPINC1):c.910T>C (p.Leu304=)
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
-
BA71-DP311R [African swine fever virus]
BA71-DP311R [African swine fever virus]Gene ID:41901353Gene
-
Itfg2 integrin alpha FG-GAP repeat containing 2 [Mus musculus]
Itfg2 integrin alpha FG-GAP repeat containing 2 [Mus musculus]Gene ID:101142Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024