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Gene entry

ARSA

arylsulfatase A

Chromosome
22
Cytoband
22q13.33
Variants (rsID)
45

ARSA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.33). Its official name is “arylsulfatase A”. The reference table lists 45 variants (rsID) for this gene.

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Clinically classified variants

38 reference-table entries with clinical significance.

  • rs113990230Benignsingle nucleotide variantMetachromatic leukodystrophy
  • rs147027229Benignsingle nucleotide variantMetachromatic leukodystrophy
  • rs2071421Benignsingle nucleotide variantARYLSULFATASE A POLYMORPHISM|Metachromatic leukodystrophy|Metachromatic leukodystrophy, juvenile type
  • rs6151415Benignsingle nucleotide variantMetachromatic leukodystrophy|Citrullinemia
  • rs6151429Benignsingle nucleotide variantArylsulfatase A pseudodeficiency|Metachromatic leukodystrophy
  • rs73172277Benignsingle nucleotide variantMetachromatic leukodystrophy
  • rs743616Benignsingle nucleotide variantMetachromatic leukodystrophy
  • rs199476391Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy
  • rs201251634Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy
  • rs6151411Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy
  • rs74315459Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy, late infantile form|Metachromatic leukodystrophy|Pseudoarylsulfatase A deficiency|Abnormality of the nervous system
  • rs74315461Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy|Inborn genetic diseases
  • rs74315468Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy
  • rs74315480Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy
  • rs199476349Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs199476366Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs199476382Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs199476389Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs28940893Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, juvenile type|Arylsulfatase a, allele a|Metachromatic leukodystrophy, adult type|Metachromatic leukodystrophy|Intellectual disability
  • rs28940894Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, adult type|Metachromatic leukodystrophy
  • rs398123411Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs74315457Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, juvenile type|Metachromatic leukodystrophy, adult type|Metachromatic leukodystrophy|Inborn genetic diseases
  • rs74315458Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, late-onset|Metachromatic leukodystrophy
  • rs74315467Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs74315470Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs74315471Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, severe|Metachromatic leukodystrophy
  • rs74315472Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, severe|Metachromatic leukodystrophy
  • rs74315473Pathogenicsingle nucleotide variantMetachromatic leukodystrophy|Spastic ataxia
  • rs74315475Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, severe|Metachromatic leukodystrophy|Leukodystrophy
  • rs74315476Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, severe|Metachromatic leukodystrophy
  • rs74315478Pathogenicsingle nucleotide variantArylsulfatase a pseudodeficiency, severe
  • rs74315479Pathogenicsingle nucleotide variantArylsulfatase a pseudodeficiency, intermediate|Metachromatic leukodystrophy
  • rs74315481Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, mild|Metachromatic leukodystrophy
  • rs74315483Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, late infantile form|Metachromatic leukodystrophy
  • rs80338815Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, adult type|Metachromatic leukodystrophy, juvenile type|Metachromatic leukodystrophy|Intellectual disability|Inborn genetic diseases|Neurodevelopmental disorder|See cases
  • rs80338819Pathogenicsingle nucleotide variantMetachromatic leukodystrophy
  • rs80338820Pathogenicsingle nucleotide variantMetachromatic leukodystrophy, juvenile type|Metachromatic leukodystrophy
  • rs6151425Not classifiedsingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.