NM_004453.4:c.807A>C

HGVS Expressions

  • NG_007078.2:g.28278A>C
  • NM_004453.4:c.807A>C
  • NP_004444.2:p.Gln269His
  • NC_000004.12:g.158695619A>C
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

565800

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231680.1United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021
231680.2.1United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021
231680.2.2United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021 Sibling of 231680.2.1
231680.2.3United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021 Sibling of 231680.2.1. Mild presentation
231680.2.4United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021 Sibling of 231680.2.1. Mild presentation
231680.3United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021 Mild presentation
231680.4United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021 Mild presentation
231680.5United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021 Asymptomatic
231680.6United Arab Emirates2PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAli et al. 2021
231680.G.1United Arab Emirates8PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAl-Shamsi et al. 2014 Group of 4 unrelated patients
231680.G.2United Arab EmiratesLikely PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyAl-Jasmi at al. 2016 Mutations identified in two Emiratis
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