{{Rsnum
|rsid=387907068
|Chromosome=22
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=CHKB
|position=50582666
|Gene_s=CHKB,CHKB-CPT1B,ERO1LB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=22
|CLNACC=RCV000023943.2
|CLNALLE=1
|CLNDBN=Muscular dystrophy, congenital, megaconial type
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:C1865233:602541:280671
|CLNHGVS=NC_000022.10:g.51021095G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=612395.0002
|Disease=Muscular dystrophy
|FwdALT=A
|FwdREF=C
|REF=G
|RSPOS=51021095
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907068
|GENEINFO=CHKB-AS1:100144603; CHKB-CPT1B:386593; CHKB:1120
|GENE_ID=100144603; 386593; 1120
|GENE_NAME=CHKB-AS1; CHKB-CPT1B; CHKB
}}