NM_005908.3:c.545G>A

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HGVS Expressions

  • NG_012804.1:g.43120G>A
  • NM_005908.3:c.545G>A
  • NP_005899.3:p.Arg182Gln
  • NC_000004.12:g.102722875C>T

Associated Genes

Mannosidase, Beta A, Lysosomal
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

759103361

Clinvar

984911

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248510.1United Arab Emirates2PathogenicMannosidosis, Beta A, LysosomalSaleh et al. 2021 Affected sibling
605988.GUnited Arab EmiratesAlmarzooqi et al. 2021 Study on symptomatic and asymptomatic Em...
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Contributors

  • Pratibha Nair: 27.09.2021

Edit History

  • Sami Bizzari: 26.07.2022
  • Pratibha Nair: 27.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.