NM_014264.5:c.1299_1303del

HGVS Expressions

  • NG_041821.1:g.10809_10813del
  • NM_014264.5:c.1299_1303del
  • NP_055079.3:p.Phe433LeufsTer6
  • NC_000004.12:g.127886669_127886673del

Associated Genes

Polo-Like Kinase 4
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

162401

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616171.1.1Saudi Arabia2PathogenicMicrocephaly And Chorioretinopathy, Autosomal Recessive, 2Shaheen et al. 2019; Shaheen et al. 2014 Index patient
616171.1.2Saudi Arabia2PathogenicMicrocephaly And Chorioretinopathy, Autosomal Recessive, 2Shaheen et al. 2019; Shaheen et al. 2014 Full brother of 616171.1.1
616171.1.3Saudi Arabia2PathogenicMicrocephaly And Chorioretinopathy, Autosomal Recessive, 2Shaheen et al. 2014 Paternal half-sister of 616171.1.1
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