NM_000016.6:c.362C>T

HGVS Expressions

  • NG_007045.2:g.14246C>T
  • NM_000016.6:c.362C>T
  • NP_000007.1:p.Thr121Ile
  • NC_000001.11:g.75733603C>T
Back to search Result
Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

3599

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201450.G.1.1Saudi Arabia36PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAl-Hassnan et al. 2010 18 patients with MCAD deficiency
201450.G.1.2Saudi Arabia2PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAl-Hassnan et al. 2010 2 compound heterozygous patients with MC...
201450.G.3United Arab EmiratesLikely PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAl-Jasmi at al. 2016 Mutations identified in four Emiratis
© CAGS 2024. All rights reserved.