{{Rsnum
|rsid=387906669
|Chromosome=19
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ACP5
|position=11576311
|Gene_s=ACP5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=19
|CLNACC=RCV000022706.24
|CLNALLE=1
|CLNDBN=Spondyloenchondrodysplasia with immune dysregulation
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1842763:607944
|CLNHGVS=NC_000019.9:g.11687126G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=171640.0002
|Disease=Spondyloenchondrodysplasia with immune dysregulation
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=11687126
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906669
|GENEINFO=ACP5:54
|GENE_ID=54
|GENE_NAME=ACP5
}}