NM_000016.6:c.347G>A

HGVS Expressions

  • NG_007045.2:g.14231G>A
  • NM_000016.6:c.347G>A
  • NP_000007.1:p.Cys116Tyr
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Genomic Location

chr1:75733588

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

226068

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201450.G.1.2Saudi Arabia2Likely Pathogenic, PathogenicAcyl-CoA Dehydrogenase, Medium-Chain, Deficiency ofAl-Hassnan et al. 2010 2 compound heterozygous patients with MC...
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