NM_152419.2:c.1327G>A

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  2. NM_152419.2:c.1327G>A

HGVS Expressions

  • NG_009552.1:g.56932G>A
  • NM_152419.2:c.1327G>A
  • NP_689632.2:p.Asp443Asn
  • NC_000008.11:g.43192380G>A

Associated Genes

Heparan-Alpha-Glucosaminide N-Acetyltransferase
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

750583721

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252930.3United Arab Emirates2PathogenicMucopolysaccharidosis, Type IIIcSaleh et al. 2021 Paternal cousin with developmental delay...
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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.