{{Rsnum
|rsid=397509421
|Chromosome=3
|position=42690863
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=KBTBD5
|Gene_s=KBTBD5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=3
|CLNACC=RCV000054413.1
|CLNALLE=1
|CLNDBN=Nemaline myopathy 8
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN178405:615348:607
|CLNHGVS=NC_000003.11:g.42732355G>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=615340.0004
|Disease=Nemaline myopathy 8
|FwdALT=C
|FwdREF=G
|REF=G
|RSPOS=42732355
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397509421
|GENEINFO=KLHL40:131377
|GENE_ID=131377
|GENE_NAME=KLHL40
}}