{{Rsnum
|rsid=121908736
|Gene=ADA
|Chromosome=20
|position=44626592
|Orientation=plus
|GMAF=0.002296
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=121908736
|variant=0010
}}{{ClinVar
|rsid=121908736
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=43255233
|CHROM=20
|GMAF=0.0023
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000040416110100
|GENEINFO=ADA:100
|GENE_NAME=ADA
|GENE_ID=100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.43255233G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;SLO;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9977; 0.002296
|CLNACC=RCV000002039.1; RCV000059096.1
|CLNDBN=Partial adenosine deaminase deficiency; Severe combined immunodeficiency due to ADA deficiency
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=C1863239; NBK1483:C1863236:102700:277
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=608958.0010; VAR_002213
|COMMON=1
|Disease=Partial adenosine deaminase deficiency; Severe combined immunodeficiency due to ADA deficiency
}}{{PMID|2166947|OA=1
}} Hot spot mutations in adenosine deaminase deficiency.