NM_018136.5:c.1959_1962del

HGVS Expressions

  • NG_015867.1:g.11861_11864del
  • NM_018136.5:c.1959_1962del
  • NP_060606.3:p.Asn653LysfsTer14
  • NC_000001.11:g.197139838_197139841del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

21560

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.13Saudi Arabia2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveShaheen et al. 2019
608716.16Saudi Arabia2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveShaheen et al. 2019
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