NM_000152.3:c.340_341insT

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  2. NM_000152.3:c.340_341insT

HGVS Expressions

  • NG_009822.1:g.8371_8372insT
  • NM_000152.3:c.340_341insT
  • NP_000143.2:p.Lys114IlefsTer32
  • NC_000017.11:g.80104926_80104927insT

Associated Genes

Glucosidase, Alpha, Acid
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Insertion

Clinvar

1068640

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.3United Arab Emirates2PathogenicGlycogen Storage Disease IIHamdan et al. 2010 Pompe disease; older sibling with Pompe ...
232300.6Palestine2Likely PathogenicGlycogen Storage Disease IIHermans et al. 2004
232300.8Palestine2PathogenicGlycogen Storage Disease IIAli et al. 2011
232300.G.1Palestine2PathogenicGlycogen Storage Disease IIAl-Jasmi et al. 2013 2 palestinian patients
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Contributors

  • Sami Bizzari: 04.01.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 20.09.2021
  • Sayeeda Hana: 08.06.2021
  • Sami Bizzari: 04.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.