NM_017668.3:c.733dup

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HGVS Expressions

  • NG_021210.1:g.55928dup
  • NM_017668.3:c.733dup
  • NP_060138.1:p.Leu245ProfsTer70
  • NC_000016.10:g.15694194dup

Associated Genes

Nude Neurodevelopment Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

749768828

Clinvar

30789

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614019.8.1Saudi Arabia2PathogenicLissencephaly 4Alkuraya et al. 2011 From Western Saudi Arabia. Patient had a...
614019.8.2Saudi Arabia1Alkuraya et al. 2011 Father of 614019.8.1
614019.8.3Saudi Arabia1Alkuraya et al. 2011 Mother of 614019.8.1
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Contributors

  • Sayeeda Hana: 29.03.2023

Edit History

  • Sayeeda Hana: 29.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.