{{Rsnum
|rsid=387907160
|Chromosome=7
|position=16376129
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=ISPD
|Gene_s=ISPD
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=7
|CLNACC=RCV000024273.1
|CLNALLE=1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:CN124931:614643:899
|CLNHGVS=NC_000007.13:g.16415754G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614631.0005
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
|FwdALT=A
|FwdREF=C
|REF=G
|RSPOS=16415754
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907160
|GENEINFO=ISPD:729920
|GENE_ID=729920
|GENE_NAME=ISPD
}}