{{Rsnum
|rsid=80338815
|Chromosome=22
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ARSA
|position=50627165
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ARSA
}}{{omim
|id=607574
|rsnum=80338815
|variant=0003
}}{{ClinVar
|rsid=80338815
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=51065593
|CHROM=22
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=ARSA:410
|GENE_NAME=ARSA
|GENE_ID=410
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.51065593C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1130; 607574.0003
|CLNSIG=5
|CLNCUI=C0751276; C0751279; C0023522
|CLNDBN=Metachromatic leukodystrophy, juvenile type; Metachromatic leukodystrophy, adult type; Metachromatic leukodystrophy; not provided
|Disease=Metachromatic leukodystrophy; Metachromatic leukodystrophy; Metachromatic leukodystrophy; not provided
|CLNACC=RCV000003192.1; RCV000003194.1; RCV000020319.1; RCV000078947.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0751276:44359008; C0751279:24326000; NBK1130:C0023522:250100:512:396338004
}}{{PMID Auto
|PMID=1670590
|Title=Molecular basis of different forms of metachromatic leukodystrophy.
}}

{{PMID Auto
|PMID=7825603
|Title=Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
|OA=1
}}

{{PMID Auto
|PMID=7866401
|Title=Molecular genetics of metachromatic leukodystrophy.
}}

{{PMID Auto
|PMID=8095918
|Title=Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
}}

{{PMID Auto
|PMID=9090526
|Title=Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
}}

{{PMID Auto
|PMID=11456299
|Title=Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
}}