NM_003190.5(TAPBP):c.1239C>T (p.Ser413=) AND MHC class I deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000538218.8
Allele description [Variation Report for NM_003190.5(TAPBP):c.1239C>T (p.Ser413=)]
NM_003190.5(TAPBP):c.1239C>T (p.Ser413=)
Condition(s)
- Name:
- MHC class I deficiency
- Synonyms:
- BARE LYMPHOCYTE SYNDROME, TYPE I; BLS, TYPE I; HLA CLASS I DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011476; MedGen: C1858266; Orphanet: 34592; OMIM: 604571
Assertion and evidence details
Last Updated: Mar 16, 2024