{{Rsnum
|rsid=148591292
|Chromosome=6
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PEX7
|position=136898242
|Gene_s=PEX7
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=6
|CLNACC=RCV000008227.1
|CLNALLE=1
|CLNDBN=Rhizomelic chondrodysplasia punctata type 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1270:C1859133:215100:177
|CLNHGVS=NC_000006.11:g.137219380G>C
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1270; 601757.0006
|Disease=Rhizomelic chondrodysplasia punctata type 1
|FwdALT=C
|FwdREF=G
|GENEINFO=PEX7:5191
|GENE_ID=5191
|GENE_NAME=PEX7
|REF=G
|RSPOS=137219380
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=134
|rsid=148591292
}}