NM_000152.5:c.1969del

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HGVS Expressions

  • NG_009822.1:g.16401del
  • NM_000152.5:c.1969del
  • NP_000143.2:p.Leu657CysfsTer39
  • NC_000017.11:g.80112956del

Associated Genes

Glucosidase, Alpha, Acid
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Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.12Saudi Arabia1Monies et al. 2017 Heterozygous carrier; this individual ha...
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Contributors

  • Asha Deepthi: 26.09.2024

Edit History

  • Asha Deepthi: 26.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.