NM_016156.5:c.331dupA

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  2. NM_016156.5:c.331dupA

HGVS Expressions

  • NG_008333.1:g.66910dupA
  • NM_016156.5:c.331dupA
  • NP_057240.3:p.Arg111LysfsX24

Associated Genes

Myotubularin-Related Protein 2
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Genomic Location

chr11:95862298

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
601382.1.1Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4B1Nouioua et al. 2011
601382.1.2Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4B1Nouioua et al. 2011 Brother of 601382.1.1
601382.1.3Algeria2PathogenicCharcot-Marie-Tooth Disease, Type 4B1Nouioua et al. 2011 Brother of 601382.1.1
601382.1.4Algeria1PathogenicNouioua et al. 2011 Unaffected father of 601382.1.1
601382.1.5Algeria1PathogenicNouioua et al. 2011 Unaffected mother of 601382.1.1
601382.1.6Algeria1PathogenicNouioua et al. 2011 Unaffected paternal grandmother of 60138...
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Contributors

  • Sayeeda Hana: 10.03.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 10.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.