NM_001281723.3:c.1224C>T

HGVS Expressions

  • NG_008019.1:g.48393C>T
  • NM_001281723.3:c.1224C>T
  • NP_001268652.2:p.Tyr408=
  • NC_000003.12:g.15645140C>T

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

38593

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.2.1Somalia1Likely BenignBiotinidase DeficiencySarafoglou et al. 2009
253260.2.2Somalia1Likely BenignBiotinidase DeficiencySarafoglou et al. 2009
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