NM_004453.3:c.1414G>A

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  2. NM_004453.3:c.1414G>A

HGVS Expressions

  • NG_007078.2:g.38976G>A
  • NM_004453.3:c.1414G>A
  • NP_004444.2:p.Gly472Arg
  • NC_000004.12:g.158706317G>A

Associated Genes

Electron Transfer Flavoprotein Dehydrogenase
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

746598421

Clinvar

459963

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231680.G.2United Arab EmiratesLikely PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAl-Jasmi at al. 2016 Mutations identified in two Emiratis
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Contributors

  • Asha Deepthi: 24.06.2021

Edit History

  • Asha Deepthi: 24.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.