{{Rsnum
|rsid=121912815
|Chromosome=10
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=CHAT
|position=49620546
|Gene_s=CHAT
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=118490
|rsnum=121912815
|variant=0002
}}{{ClinVar
|rsid=121912815
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=50828592
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CHAT:1103
|GENE_NAME=CHAT
|GENE_ID=1103
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.50828592C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=118490.0002
|CLNSIG=5
|CLNCUI=C0393929
|CLNDBN=Familial infantile myasthenia
|Disease=Familial infantile myasthenia
|CLNACC=RCV000019058.26
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1168:C0393929:254210:590:230670003
}}