NM_000277.3:c.592_613del

HGVS Expressions

  • NG_008690.2:g.108161_108182del
  • NM_000277.3:c.592_613del
  • NP_000268.1:p.Tyr198fs
  • NC_000012.12:g.102855231_102855252del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

102746

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.28Egypt1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.30Egypt1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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