NM_000488.4(SERPINC1):c.1119C>T (p.Val373=) AND Hereditary antithrombin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001395876.6
Allele description [Variation Report for NM_000488.4(SERPINC1):c.1119C>T (p.Val373=)]
NM_000488.4(SERPINC1):c.1119C>T (p.Val373=)
Condition(s)
- Name:
- Hereditary antithrombin deficiency (AT3D)
- 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
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Leptostylis villosa isolate 57-60 cytochrome b (cytb) gene, partial cds; mitocho...
Leptostylis villosa isolate 57-60 cytochrome b (cytb) gene, partial cds; mitochondrialgi|2371416812|gb|OL841428.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024