NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) AND Severe combined immunodeficiency, B cell-negative
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2004
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014016.25
Allele description [Variation Report for NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)]
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
Condition(s)
- Name:
- Severe combined immunodeficiency, B cell-negative
- Identifiers:
- MedGen: C1867362
Assertion and evidence details
Last Updated: Aug 4, 2024