NM_000507.4:c.616_619del

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HGVS Expressions

  • NG_008174.1:g.38346_38349del
  • NM_000507.4:c.616_619del
  • NP_000498.2:p.Lys206ValfsTer70
  • NC_000009.12:g.94606905_94606908del

Associated Genes

Fructose-1,6-Bisphosphatase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
229700.G.1United Arab Emirates4Likely PathogenicFructose-1,6-Bisphophatase DeficiencyAl-Shamsi et al. 2014; Ali et al. 2011 2 Emiratis
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Contributors

  • Sayeeda Hana: 20.09.2021

Edit History

  • Sami Bizzari: 08.02.2023
  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 03.01.2023
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 20.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.