NM_000593.6(TAP1):c.410C>G (p.Pro137Arg) AND MHC class I deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 3, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000642357.6
Allele description [Variation Report for NM_000593.6(TAP1):c.410C>G (p.Pro137Arg)]
NM_000593.6(TAP1):c.410C>G (p.Pro137Arg)
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: Feb 20, 2024