NM_001281723.3:c.364C>A

HGVS Expressions

  • NG_008019.1:g.45275C>A
  • NM_001281723.3:c.364C>A
  • NP_001268652.2:p.Pro122Thr
  • NC_000003.12:g.15642022C>A

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

25004

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.2.1Somalia1PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.2.2Somalia1PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.2.4Somalia1PathogenicBiotinidase DeficiencySarafoglou et al. 2009
253260.G.14SomaliaNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Somali origin. Number...
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