NM_000246.4(CIITA):c.2772C>T (p.Ser924=) AND MHC class II deficiency
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001425330.9
Allele description [Variation Report for NM_000246.4(CIITA):c.2772C>T (p.Ser924=)]
NM_000246.4(CIITA):c.2772C>T (p.Ser924=)
Condition(s)
- Name:
- MHC class II deficiency
- Synonyms:
- BLS, TYPE II; SCID, HLA CLASS II-NEGATIVE; Bare Lymphocyte Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008855; MedGen: C2931418; Orphanet: 572; OMIM: PS209920
Assertion and evidence details
Last Updated: Sep 29, 2024