{{Rsnum
|rsid=387907300
|Chromosome=3
|position=43080959
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=C3orf39
|Gene_s=C3orf39
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=3
|CLNACC=RCV000030788.1
|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.43122451C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614828.0002
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=43122451
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907300
|GENEINFO=POMGNT2:84892
|GENE_ID=84892
|GENE_NAME=POMGNT2
}}