{{Rsnum
|rsid=1065757
|Gene=ARSB
|Chromosome=5
|position=78885654
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.3398
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ARSB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 20.4 | 47.8 | 31.9
| HCB | 11.9 | 54.5 | 33.6
| JPT | 13.3 | 48.7 | 38.1
| YRI | 0.0 | 5.4 | 94.6
| ASW | 1.8 | 16.1 | 82.1
| CHB | 11.9 | 54.5 | 33.6
| CHD | 12.8 | 45.9 | 41.3
| GIH | 7.9 | 37.6 | 54.5
| LWK | 0.0 | 2.7 | 97.3
| MEX | 19.0 | 53.4 | 27.6
| MKK | 1.3 | 14.7 | 84.0
| TSI | 15.8 | 49.5 | 34.7
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1065757
|allele=G
|frequency=0.432
|uid=1103654141459
|type=heterozygous_SNP
|hugo=ARSB
|ensembl gene=ENSG00000113273
|ensembl transcript=ENST00000264914
|sift=TOLERATED
|disease=Arylsulfatase B 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.
}}

{{GET Evidence
|gene=ARSB
|aa_change=Val358Met
|aa_change_short=V358M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1065757
|overall_frequency_n=3443
|overall_frequency_d=10758
|overall_frequency=0.320041
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=31
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.117
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=10
}}

{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}