NM_000151.3:c.209G>A

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  2. NM_000151.3:c.209G>A

HGVS Expressions

  • NG_011808.1:g.5288G>A
  • NM_000151.3:c.209G>A
  • NP_000142.2:p.Trp70Ter
  • NC_000017.11:g.42901085G>A

Associated Genes

Glucose-6-Phosphatase, Catalytic
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1567702823

Clinvar

813495

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232200.6.1Lebanon1PathogenicGlycogen Storage Disease ITrioche et al, 1999 Lebanese father, French mother
232200.6.2Lebanon1PathogenicTrioche et al, 1999 Father of 232200.6.1
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Contributors

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 06.05.2019

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 06.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.