{{Rsnum
|rsid=80338711
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=ARSE
|position=2953163
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ARSE
}}{{omim
|id=300180
|rsnum=80338711
|variant=0004
}}{{ClinVar
|rsid=80338711
|Reversed=1
|FwdREF=G
|FwdALT=C,T
|REF=C
|ALT=A,G
|RSPOS=2871204
|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; 2
|CLNHGVS=NC_000023.10:g.2871204C>A; NC_000023.10:g.2871204C>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1544; 300180.0004
|CLNSIG=5
|CLNCUI=C1844853; C1844853,C1844853
|CLNDBN=Chondrodysplasia punctata 1, X-linked recessive
|Disease=Chondrodysplasia punctata 1
|CLNACC=RCV000012281.10; RCV000020092.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1544:C1844853:302950
}}{{PMID Auto
|PMID=9863597
|Title=Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
|OA=1
}}

{{PMID Auto
|PMID=18348268
|Title=Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
}}

{{PMID Auto
|PMID=2722194
|Title=Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.
}}

{{PMID Auto
|PMID=7720070
|Title=A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
}}

{{PMID Auto
|PMID=9497243
|Title=Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
|OA=1
}}