NM_000277.3:c.169_171del

HGVS Expressions

  • NG_008690.2:g.68493_68495del
  • NM_000277.3:c.169_171del
  • NP_000268.1:p.Glu57del
  • NC_000012.12:g.102894918_102894920del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.33Palestine1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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