NM_024577.4:c.2238dup

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HGVS Expressions

  • NG_007947.2:g.40681dup
  • NM_024577.4:c.2238dup
  • NP_078853.2:p.Cys747LeufsTer2
  • NC_000005.10:g.149027495dup

Associated Genes

SH3 Domain and Tetratricopeptide Repeat Domain 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601596.1Saudi Arabia2Likely PathogenicCharcot-Marie-Tooth Disease, Demyelinating,Type 4CMonies et al. 2017
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Contributors

  • Asha Deepthi: 20.09.2024

Edit History

  • Asha Deepthi: 20.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.