NM_000277.3:c.266_267insG

HGVS Expressions

  • NG_008690.2:g.68590_68591insG
  • NM_000277.3:c.266_267insG
  • NP_000268.1:p.Ala90fs
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Genomic Location

chr12:102894820-102894821

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Clinvar

805816

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.5.1Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.5.2Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Sibling of 261600.5.1. Diagnosed through...
261600.7Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
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