NM_000709.4:c.1227_1229del

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HGVS Expressions

  • NG_013004.1:g.31709_31711del
  • NM_000709.4:c.1227_1229del
  • NP_000700.1:p.Phe409_Ser410delinsLeu
  • NC_000019.10:g.41424497_41424499del

Associated Genes

Branched-Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.G.2SudanLikely PathogenicMaple Syrup Urine DiseaseAl-Jasmi at al. 2016 UAE resident(s) of Sudanese origin. Numb...
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Contributors

  • Asha Deepthi: 09.06.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 09.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.