NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs) AND Immunodeficiency, common variable, 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000801536.3
Allele description [Variation Report for NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs)]
NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs)
Condition(s)
- Name:
- Immunodeficiency, common variable, 2
- Synonyms:
- ANTIBODY DEFICIENCY DUE TO TACI DEFECT; HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY; Hypogamma-globulinemia, acquired; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009413; MedGen: C3150354; Orphanet: 1572; OMIM: 240500
-
Chain A, 3C-like proteinase
Chain A, 3C-like proteinasegi|301015796|pdb|3IWM|AProtein
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Last Updated: Feb 14, 2024