NM_018136.5:c.9686_9690del

HGVS Expressions

  • NG_015867.1:g.61356_61360del
  • NM_018136.5:c.9686_9690del
  • NP_060606.3:p.Ile3229fs
  • NC_000001.11:g.197090338_197090342del
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

21633

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.6.1Lebanon2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009 Proband
608716.6.2Lebanon2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009 Sibling of 608716.6.1
608716.6.3Lebanon2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009 Sibling of 608716.6.1
608716.6.4Lebanon2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009 Sibling of 608716.6.1
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