NM_000199.3:c.1175del

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HGVS Expressions

  • NG_008229.1:g.14615del
  • NM_000199.3:c.1175del
  • NP_000190.1:p.Phe392SerfsTer21
  • NC_000017.11:g.80210787del

Associated Genes

N-Sulfoglucosamine Sulfohydrolase
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252900.1United Arab Emirates2PathogenicMucopolysaccharidosis Type IIIASaleh et al. 2021
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Contributors

  • Pratibha Nair: 27.09.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 27.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.