NM_000246.4(CIITA):c.491C>G (p.Pro164Arg) AND MHC class II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000402014.5
Allele description [Variation Report for NM_000246.4(CIITA):c.491C>G (p.Pro164Arg)]
NM_000246.4(CIITA):c.491C>G (p.Pro164Arg)
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
-
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesMedGen
-
C0027612[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 2, 2024