NM_001281723.3:c.566G>A

HGVS Expressions

  • NG_008019.2:g.48131G>A
  • NM_001281723.3:c.566G>A
  • NP_001268653.2:p.Arg189His
  • NC_000003.12:g.15644482G>A

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

92400

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.G.9EgyptNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Egyptian origin. Numb...
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