{{Rsnum
|rsid=387907069
|Chromosome=22
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CHKB
|position=50579979
|Gene_s=CHKB,CHKB-CPT1B,CPT1B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=22
|CLNACC=RCV000023945.1
|CLNALLE=1
|CLNDBN=Muscular dystrophy, congenital, megaconial type
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:C1865233:602541:280671
|CLNHGVS=NC_000022.10:g.51018408G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=612395.0004
|Disease=Muscular dystrophy
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=51018408
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907069
|GENEINFO=CHKB-CPT1B:386593; CPT1B:1375; CHKB:1120
|GENE_ID=386593; 1375; 1120
|GENE_NAME=CHKB-CPT1B; CPT1B; CHKB
}}