NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala) AND Hereditary antithrombin deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502036.1
Allele description [Variation Report for NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)]
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)
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
-
Nerita polita isolate Reu.2 cytochrome c oxidase subunit I gene, partial cds; mi...
Nerita polita isolate Reu.2 cytochrome c oxidase subunit I gene, partial cds; mitochondrialgi|657173941|gb|KJ458472.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024