NM_000151.3:c.247C>T

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HGVS Expressions

  • NG_011808.1:g.8150C>T
  • NM_000151.3:c.247C>T
  • NP_000142.2:p.Arg83Cys

Associated Genes

Glucose-6-Phosphatase, Catalytic
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Genomic Location

chr17:42903947

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1801175

Clinvar

11998

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232200.1Saudi Arabia2PathogenicGlycogen Storage Disease IMonies et al. 2017
232200.2Palestine2PathogenicGlycogen Storage Disease IParvari et al. 1997
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Contributors

  • Pratibha Nair: 06.05.2019

Edit History

  • Pratibha Nair: 06.05.2019
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© CAGS 2024. All rights reserved.