NM_000512.4:c.898+1G>A

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HGVS Expressions

  • NG_008667.1:g.26755G>A
  • NM_000512.4:c.898+1G>A

Associated Genes

Galactosamine-6-Sulfate Sulfatase
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Genomic Location

chr16:88835212

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

761850746

Clinvar

528323

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253000.1Lebanon2PathogenicMucopolysaccharidosis Type IVANair et al. 2018
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Contributors

  • Sami Bizzari: 18.04.2024
  • Pratibha Nair: 26.04.2020

Edit History

  • Sami Bizzari: 18.04.2024
  • Pratibha Nair: 26.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.