NM_001145661.2:c.1032_1036dup

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  2. NM_001145661.2:c.1032_1036dup

HGVS Expressions

  • NG_029334.1:g.16256_12660dup
  • NM_001145661.2:c.1032_1036dup
  • NP_116027.2:p.Gly346Glufs

Associated Genes

GATA-Binding Protein 2
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Genomic Location

chr3:128481932:128481936

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
614038.1Lebanon1Likely PathogenicLymphedema, Primary, with MyelodysplasiaNair et al. 2018
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Contributors

  • Pratibha Nair: 14.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 14.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.