{{Rsnum
|rsid=743616
|Gene=ARSA
|Chromosome=22
|position=50625611
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.4261
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ARSA
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 30.8 | 47.7 | 21.5
| HCB | 13.3 | 42.2 | 44.4
| JPT | 11.4 | 50.0 | 38.6
| YRI | 12.7 | 50.8 | 36.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 13.3 | 42.2 | 44.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=743616
|allele=C
|frequency=0.433
|uid=1103691067563
|type=heterozygous_SNP
|hugo=ARSA
|ensembl gene=ENSG00000100299
|ensembl transcript=ENST00000216124
|sift=TOLERATED
|disease=Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) (MIM:272200). MSD is a disorder characterized by decreased activity of all known sulfatases. MSD is due to defects in SUMF1 resulting in the lack of post- translational modification of a highly conserved cysteine into 3- oxoalanine. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
}}

{{ neighbor
| rsid = 28940895
| distance = 165
}}
{{ neighbor
| rsid = 2071421
| distance = 377
}}

{{omim
|id=250100
|rsnum=743616
}}

{{ClinVar
|rsid=743616
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=51064039
|CHROM=22
|GMAF=0.4258
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05036800000017051f110101
|GENEINFO=ARSA:410
|GENE_NAME=ARSA
|GENE_ID=410
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.51064039G>C
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=250100
|CLNDBN=Metachromatic leukodystrophy; AllHighlyPenetrant
|Tags=PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.5739; 0.4261
|CLNACC=RCV000020311.1; RCV000078937.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1130:C0023522:250100:512:396338004; CN169374
|CLNSRC=Emory University; GeneReviews
|CLNSRCID=98; NBK1130
|COMMON=1
|Disease=Metachromatic leukodystrophy; AllHighlyPenetrant
}}

{{PMID Auto
|PMID=18454203
|Title=Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
|OA=1
}}

{{GET Evidence
|gene=ARSA
|aa_change=Thr391Ser
|aa_change_short=T391S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs743616
|overall_frequency_n=5177
|overall_frequency_d=10756
|overall_frequency=0.481313
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=47
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=10
}}

{{on chip | HumanOmni1Quad}}