NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg) AND MHC class II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000808699.7
Allele description [Variation Report for NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg)]
NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg)
Condition(s)
- Name:
- MHC class II deficiency
- Synonyms:
- BARE LYMPHOCYTE SYNDROME, TYPE II; BLS, TYPE II; SCID, HLA CLASS II-NEGATIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008855; MedGen: C2931418; Orphanet: 572; OMIM: 209920
Assertion and evidence details
Last Updated: Feb 7, 2023