NM_182961.4:c.25741dup

  1. Home
  2. NM_182961.4:c.25741dup

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
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
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
Download Table

Contributors

  • Sayeeda Hana: 26.02.2022

Edit History

  • Sayeeda Hana: 27.02.2022
  • Sayeeda Hana: 26.02.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.