{{Rsnum
|rsid=114025668
|Gene=ADA
|Chromosome=20
|position=44623042
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=114025668
|variant=0015
}}{{ClinVar
|rsid=114025668
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=43251683
|CHROM=20
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000040016110100
|GENEINFO=ADA:100
|GENE_NAME=ADA
|GENE_ID=100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.43251683C>T
|CLNORIGIN=0
|CLNSIG=5
|Tags=PM;PMC;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000002044.1; RCV000059112.1
|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=608958.0015; VAR_002233
|COMMON=0
|Disease=Partial adenosine deaminase deficiency; Severe combined immunodeficiency due to ADA deficiency
}}{{PMID Auto
|PMID=2166947
|Title=Hot spot mutations in adenosine deaminase deficiency.
|OA=1
}}