NM_000246.4(CIITA):c.628+19A>T AND MHC class II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003637183.1
Allele description [Variation Report for NM_000246.4(CIITA):c.628+19A>T]
NM_000246.4(CIITA):c.628+19A>T
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
-
Homo sapiens transmembrane protein 37 (TMEM37), mRNA
Homo sapiens transmembrane protein 37 (TMEM37), mRNAgi|1519315886|ref|NM_183240.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024