NM_018136.5:c.7782_7783del

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HGVS Expressions

  • NG_015867.1:g.50226_50227del
  • NM_018136.5:c.7782_7783del
  • 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

Likely Pathogenic, 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
608716.3.1Algeria2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009 Proband
608716.3.2Algeria2Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009 Sibling of 608716.3.1
608716.7United Arab Emirates2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaleh et al. 2021 Sibling with learning difficulty
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Contributors

  • Pratibha Nair: 08.07.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Pratibha Nair: 10.10.2021
  • Pratibha Nair: 11.07.2021
  • Pratibha Nair: 08.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.