{{Rsnum
|rsid=80338714
|Chromosome=X
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ARSE
|position=2934859
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ARSE
}}{{omim
|id=300180
|rsnum=80338714
|variant=0008
}}{{ClinVar
|rsid=80338714
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=2852900
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=ARSE:415
|GENE_NAME=ARSE
|GENE_ID=415
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.2852900C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1544; 300180.0008
|CLNSIG=5
|CLNCUI=C1844853; C1844853
|CLNDBN=Chondrodysplasia punctata 1, X-linked recessive
|Disease=Chondrodysplasia punctata 1
|CLNACC=RCV000012285.23
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1544:C1844853:302950
}}{{PMID Auto
|PMID=12567415
|Title=X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
}}