{{Rsnum
|rsid=121908722
|Chromosome=20
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ADA
|position=44625580
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=121908722
|variant=0032
}}{{ClinVar
|rsid=121908722
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=43254221
|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
|CLNHGVS=NC_000020.10:g.43254221C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000002061.1; RCV000059106.1
|CLNDBN=SCID due to ADA deficiency, delayed onset; Severe combined immunodeficiency due to ADA deficiency
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=608958.0032; VAR_002227
|Disease=SCID due to ADA deficiency; Severe combined immunodeficiency due to ADA deficiency
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=C1863237; NBK1483:C1863236:102700:277
}}{{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
}}