NM_005219.5:c.2769del

HGVS Expressions

  • NG_011594.2:g.94875del
  • NM_005219.5:c.2769del
  • NP_005210.3:p.Phe923fs
  • NC_000005.10:g.141529183del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

217753

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616632.3.1Oman2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeAl-Maawali et al. 2016 Patient had an older sister who "died of...
616632.3.2Oman2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeAl-Maawali et al. 2016 Sibling of 616632.3.1
616632.3.3Oman2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeAl-Maawali et al. 2016 Sibling of 616632.3.1
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