NM_018136.5:c.7781_7782del

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HGVS Expressions

  • NG_015867.1:g.50226_50227del
  • NM_018136.5:c.7781_7782del
  • NP_060606.3:p.Lys2595SerfsTer6
  • NC_000001.11:g.197101469_197101470del

Associated Genes

Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

199422173

Clinvar

21606

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.1.1Algeria1PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaadi et al. 2009
608716.1.2Algeria1PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaadi et al. 2009 Sibling of 608716.1.1
608716.1.3Algeria1PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaadi et al. 2009 Sibling of 608716.1.1
608716.1.5Algeria1PathogenicSaadi et al. 2009 Father of 608716.1.1
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Contributors

  • Pratibha Nair: 05.08.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 06.09.2020
  • Pratibha Nair: 05.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.