NM_004946.2:c.3724_3725dup

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HGVS Expressions

  • NM_004946.2:c.3724_3725dup
  • NP_004937.1:p.Leu1244ArgfsTer34
  • NC_000005.10:g.170041113_170041114dup

Associated Genes

Dedicator of Cytokinesis 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

199258

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616433.1Lebanon2PathogenicImmunodeficiency 40Dobbs et al. 2015
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Contributors

  • Pratibha Nair: 13.06.2021

Edit History

  • Pratibha Nair: 13.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.