{{Rsnum
|rsid=121908714
|Chromosome=20
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ADA
|position=44626516
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=121908714
|variant=0003
}}
{{omim
|id=102700
|rsnum=121908714
}}{{ClinVar
|rsid=121908714
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=43255157
|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.43255157C>A; NC_000020.10:g.43255157C>T
|CLNSRC=UniProtKB (variants); OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=VAR_002216; 608958.0003; VAR_002218
|CLNSIG=5
|CLNCUI=C1863236
|CLNDBN=Severe combined immunodeficiency due to ADA deficiency
|Disease=Severe combined immunodeficiency due to ADA deficiency
|CLNACC=RCV000059098.1; RCV000002033.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1483:C1863236:102700:277
}}{{PMID Auto
|PMID=3839802
|Title=Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
|OA=1
}}

{{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
}}