NM_001698.3:c.830_831del

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HGVS Expressions

  • NM_001698.3:c.830_831del
  • NP_001689.1:p.Glu277ValfsTer17
  • NC_000009.12:g.91220818TC[2]

Associated Genes

AU-Specific RNA-Binding Protein
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

778245303

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250950.3United Arab Emirates2Likely Pathogenic3-Methylglutaconic Aciduria, Type ISaleh et al. 2021 Similarly affected siblings
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Contributors

  • Pratibha Nair: 07.01.2022

Edit History

  • Pratibha Nair: 05.01.2023
  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 07.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.