{{Rsnum
|rsid=121908191
|Chromosome=5
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ITK
|position=157241663
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ITK
}}{{omim
|id=186973
|rsnum=121908191
|variant=0001
}}{{ClinVar
|rsid=121908191
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=156668673
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ITK:3702
|GENE_NAME=ITK
|GENE_ID=3702
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.156668673C>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=186973.0001; VAR_063424
|CLNSIG=5
|CLNCUI=C2751686
|CLNDBN=Lymphoproliferative syndrome, ebv-associated, autosomal, 1
|Disease=Lymphoproliferative syndrome
|CLNACC=RCV000013578.23
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751686:613011:238505
}}{{PMID Auto
|PMID=19425169
|Title=Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
|OA=1
}}