{{Rsnum
|rsid=397509385
|Chromosome=8
|position=43122234
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=C7orf43
|Gene_s=C7orf43
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=8
|CLNACC=RCV000043555.2
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN169987:615249:899
|CLNHGVS=NC_000008.10:g.42977377T>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=615247.0001
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=G
|FwdREF=T
|REF=T
|RSPOS=42977377
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397509385
|GENEINFO=POMK:84197
|GENE_ID=84197
|GENE_NAME=POMK
}}