NM_017668.3:c.775del

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HGVS Expressions

  • NG_021210.1:g.55970del
  • NM_017668.3:c.775del
  • NP_060138.1:p.Asp259ThrfsTer99
  • NC_000016.10:g.15694236del

Associated Genes

Nude Neurodevelopment Protein 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614019.1.1Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019
614019.1.2Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019 Relative of 614019.1.1
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Contributors

  • Sayeeda Hana: 25.01.2022

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 25.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.