NM_000152.4:c.1327-2A>G

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  2. NM_000152.4:c.1327-2A>G

HGVS Expressions

  • NG_009822.1:g.13388A>G
  • NM_000152.4:c.1327-2A>G
  • NP_000143.2:p.?
  • NC_000017.11:g.80109943A>G

Associated Genes

Glucosidase, Alpha, Acid
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1410829147

Clinvar

972762

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.1.1United Arab Emirates2PathogenicGlycogen Storage Disease IIHamdan et al. 2008 Pompe disease; Died at 8-months of age. ...
232300.1.2United Arab Emirates2PathogenicGlycogen Storage Disease IIHamdan et al. 2008 Sibling of 232300.1.1. Has unaffected fr...
232300.2United Arab Emirates2PathogenicGlycogen Storage Disease IIHamdan et al. 2010 Pompe disease; poor response to ERT
232300.9United Arab Emirates2PathogenicGlycogen Storage Disease IIAl-Jasmi et al. 2013
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Contributors

  • Pratibha Nair: 06.05.2019

Edit History

  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Sami Bizzari: 03.06.2022
  • Sayeeda Hana: 26.09.2021
  • Pratibha Nair: 06.05.2019
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© CAGS 2024. All rights reserved.