{{Rsnum
|rsid=387907299
|Chromosome=3
|position=43080099
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=C3orf39
|Gene_s=C3orf39
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=3
|CLNACC=RCV000030787.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN143953:614830:899
|CLNHGVS=NC_000003.11:g.43121591G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614828.0001
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=43121591
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907299
|GENEINFO=POMGNT2:84892
|GENE_ID=84892
|GENE_NAME=POMGNT2
}}