NM_018136.5:c.9751del

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HGVS Expressions

  • NG_015867.1:g.61424del
  • NM_018136.5:c.9751del
  • NP_060606.3:p.Arg3252GlufsTer10
  • NC_000001.11:g.197090274del

Associated Genes

Abnormal Spindle-Like, Microcephaly-Associated
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

199422197

Clinvar

21637

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.G.1United Arab Emirates16Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessiveAl-Gazali and Ali, 2010 Consanguineous family with 8 affected ch...
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Contributors

  • Pratibha Nair: 05.08.2020

Edit History

  • Pratibha Nair: 29.12.2022
  • Pratibha Nair: 21.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 05.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.