NM_000019.4:c.86_87dup

HGVS Expressions

  • NG_009888.2:g.20216_20217dup
  • NM_000019.4:c.86_87dup
  • NP_000010.1:p.Glu30TrpfsTer11
  • NC_000011.10:g.108131920_108131921dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

Clinvar

666464

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203750.2United Arab Emirates2Likely PathogenicAlpha-Methylacetoacetic AciduriaAl-Jasmi at al. 2016
203750.G.1United Arab EmiratesLikely PathogenicAlpha-Methylacetoacetic AciduriaAl-Shamsi et al. 2014 2 mutations detected in 3 patients detec...
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