NM_000016.6:c.431_434del

HGVS Expressions

  • NG_007045.1:g.15477_15480del
  • NM_000016.6:c.431_434del
  • NP_000007.1:p.Lys144IlefsTer5
  • NC_000001.11:g.75734834_75734837del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

371546

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201450.2Palestine2PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAli et al. 2011
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