NM_000147.4:c.558dup

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HGVS Expressions

  • NG_013346.1:g.10132dup
  • NM_000147.4:c.558dup
  • NP_000138.2:p.Glu187ArgfsTer10
  • NC_000001.11:g.23863238dup

Associated Genes

Fucosidase, Alpha-L, 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
230000.1United Arab Emirates2PathogenicFucosidosisSaleh et al. 2021
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Contributors

  • Pratibha Nair: 03.10.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 03.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.