NM_182961.4:c.25741dup

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HGVS Expressions

  • NG_012855.2:g.507249dup
  • NM_182961.4:c.25741dup
  • NP_892006.3:p.Ser8581PhefsTer2
  • NC_000006.12:g.152135152dup

Associated Genes

Spectrin Repeat-Containing Nuclear Envelope Protein 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618484.1.1Jordan2PathogenicArthrogryposis Multiplex Congenita 3, Myogenic TypeMakrythanasis et al. 2014
618484.1.2Jordan2PathogenicArthrogryposis Multiplex Congenita 3, Myogenic TypeMakrythanasis et al. 2014 Brother of 618484.1.1
618484.1.3Jordan2PathogenicArthrogryposis Multiplex Congenita 3, Myogenic TypeMakrythanasis et al. 2014 Brother of 618484.1.1
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Contributors

  • Sayeeda Hana: 26.02.2022

Edit History

  • Sayeeda Hana: 27.02.2022
  • Sayeeda Hana: 26.02.2022
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.