NM_001270397.1:c.352G>C

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  2. NM_001270397.1:c.352G>C

HGVS Expressions

  • NM_001270397.1:c.352G>C
  • NP_001257326.1:p.Ala118Pro
  • NC_000017.11:g.42907611G>C

Associated Genes

Glucose-6-Phosphatase, Catalytic
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232200.5United Arab Emirates2Likely PathogenicGlycogen Storage Disease IAl-Shamsi et al. 2016; Ali et al. 2011
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Contributors

  • Sami Bizzari: 20.03.2023
  • Pratibha Nair: 06.05.2019

Edit History

  • Sami Bizzari: 20.03.2023
  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 18.10.2020
  • Pratibha Nair: 07.07.2020
  • Pratibha Nair: 06.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.