NM_000108.5:c.1444A>G

HGVS Expressions

  • NP_000099.2:p.Arg482Gly
  • NM_000108.5:c.1444A>G
  • NP_000099.2:p.Arg482Gly
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Genomic Location

chr7:107919079

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

40187

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
246900.2.1Algeria2PathogenicDihydrolipoamide Dehydrogenase DeficiencyOdièvre et al. 2005; Bonnefont et al, 1992
246900.2.2Algeria2PathogenicDihydrolipoamide Dehydrogenase DeficiencyOdièvre et al. 2005; Bonnefont et al, 1992 Brother of 246900.2.1
246900.2.3Algeria2PathogenicDihydrolipoamide Dehydrogenase DeficiencyOdièvre et al. 2005; Bonnefont et al, 1992 Brother of 246900.2.1
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