NM_020408.6:c.203G>T

HGVS Expressions

  • NG_051651.1:g.49329G>T; NC_000006.12:g.5216622C>A
  • NM_020408.6:c.203G>T
  • NP_065141.3:p.Arg68Leu
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

102450

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615595.1.1Lebanon; Syria2PathogenicCombined Oxidative Phosphorylation Deficiency 19Lim et al. 2013 Proband from a Lebanese-Syrian family
615595.1.2Lebanon; Syria2PathogenicCombined Oxidative Phosphorylation Deficiency 19Lim et al. 2013 Double first cousin of 615595.1.1
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