{{Rsnum
|rsid=121908721
|Chromosome=20
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ADA
|position=44621121
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=121908721
|variant=0019
}}{{ClinVar
|rsid=121908721
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=43249762
|CHROM=20
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=ADA:100
|GENE_NAME=ADA
|GENE_ID=100
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000020.10:g.43249762G>A; NC_000020.10:g.43249762G>C
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=0; 1
|CLNSRCID=608958.0019; VAR_002237
|CLNSIG=5
|CLNCUI=C1863236
|CLNDBN=Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency disease
|Disease=Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency disease
|CLNACC=RCV000002048.2; RCV000029302.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:SNOMED_CT
|CLNDSDBID=NBK1483:C1863236:102700:277; C0085110:31323000
}}{{PMID Auto
|PMID=1284479
|Title=Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
}}

{{PMID Auto
|PMID=8227344
|Title=Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
|OA=1
}}