{{Rsnum
|rsid=118204452
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NHEJ1
|position=219157495
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NHEJ1
}}{{omim
|id=611290
|rsnum=118204452
|variant=0002
}}{{ClinVar
|rsid=118204452
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=220022217
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=NHEJ1:79840
|GENE_NAME=NHEJ1
|GENE_ID=79840
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.220022217A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=611290.0002
|CLNSIG=5
|CLNCUI=C1969799
|CLNDBN=Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
|Disease=Severe combined immunodeficiency with microcephaly
|CLNACC=RCV000001033.2
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1969799:611291:169079
}}