{{Rsnum
|rsid=7197779
|Gene=CIITA
|Chromosome=16
|position=10909070
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.05372
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CIITA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 2.2 | 97.8
| JPT | 0.0 | 1.8 | 98.2
| YRI | 8.2 | 38.1 | 53.7
| ASW | 5.4 | 37.5 | 57.1
| CHB | 0.0 | 2.2 | 97.8
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 0.0 | 0.0
| LWK | 3.6 | 30.0 | 66.4
| MEX | 0.0 | 3.5 | 96.5
| MKK | 1.3 | 21.2 | 77.6
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=7197779
|allele=G
|frequency=
|uid=1103645424932
|type=homozygous_SNP
|hugo=CIITA
|ensembl gene=ENSG00000179583
|ensembl transcript=ENST00000324288
|sift=TOLERATED
|disease=Defects in CIITA are a cause of bare lymphocyte syndrome type II (BLS II) (MIM:209920); also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS II is a form of severe combined immunodeficiency disease (SCID) characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, an absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. CIITA is linked with BLS II complementation group A.
}}

{{GET Evidence
|gene=CIITA
|aa_change=Gln900Arg
|aa_change_short=Q900R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7197779
|overall_frequency_n=9885
|overall_frequency_d=10758
|overall_frequency=0.918851
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=100
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}