NM_000016.6:c.985A>G

HGVS Expressions

  • NG_007045.2:g.41804A>G
  • NM_000016.6:c.985A>G
  • NP_000007.1:p.Lys329Glu
  • NC_000001.11:g.75761161A>G
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

3586

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201450.1Palestine2Likely PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofBen-Rebeh et al. 2012
201450.G.2United Arab EmiratesPathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAl-Shamsi et al. 2014 Unknown number of patients with MCAD def...
201450.G.3United Arab EmiratesLikely PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAl-Jasmi at al. 2016 Mutations identified in four Emiratis
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