NM_000152.4:c.266G>A

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  2. NM_000152.4:c.266G>A

HGVS Expressions

  • NG_009822.1:g.8297G>A
  • NM_000152.4:c.266G>A
  • NP_000143.2:p.Arg89His
  • NC_000017.11:g.80104852G>A

Associated Genes

Glucosidase, Alpha, Acid
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

200586324

Clinvar

283219

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232200.1Saudi Arabia2Likely PathogenicGlycogen Storage Disease IMonies et al. 2017
232300.4Lebanon2PathogenicGlycogen Storage Disease IINair et al. 2018 Patient has affected siblings
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Contributors

  • Pratibha Nair: 16.04.2020
  • Pratibha Nair: 06.05.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 16.04.2020
  • Pratibha Nair: 06.05.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.