{{Rsnum
|rsid=121908735
|Chromosome=20
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ADA
|position=44625581
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=121908735
|variant=0018
}}{{ClinVar
|rsid=121908735
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=43254222
|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.43254222G>A
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=0
|CLNSRCID=608958.0018; VAR_002226
|CLNSIG=5
|CLNCUI=C1863236
|CLNDBN=Severe combined immunodeficiency due to ADA deficiency
|Disease=Severe combined immunodeficiency due to ADA deficiency
|CLNACC=RCV000002047.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1483:C1863236:102700:277
}}{{PMID|1284479}} Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.