{{Rsnum
|rsid = 28935474
|Gene = ARSE
|geno1 = (C;C)
|geno2 = (C;T)
|geno3 = (T;T)
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|Chromosome=X
|position=2934870
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ARSE
}}{{omim
|desc=CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
|id=300180
|rsnum=28935474
|variant=0007
}}

{{ClinVar
|rsid=28935474
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=2852911
|CHROM=X
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000102110100
|GENEINFO=ARSE:415
|GENE_NAME=ARSE
|GENE_ID=415
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.2852911G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1544; 300180.0007
|CLNSIG=5
|CLNCUI=C1844853; C1844853
|CLNDBN=Chondrodysplasia punctata 1, X-linked recessive
|Disease=Chondrodysplasia punctata 1
|CLNACC=RCV000012284.10
|Tags=RV;PM;PMC;S3D;SLO;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1544:C1844853:302950
}}

{{PMID|12567415}} X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}