NM_001201536.1:c.40_41del

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HGVS Expressions

  • NM_001201536.1:c.40_41del
  • NP_001188465.1:p.Asp14Ter
  • NC_000001.11:g.222588524_222588525del

Associated Genes

Tata Box-Binding Protein-Associated Factor 1A
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604903.1Saudi Arabia2PathogenicTAF1A Associated CataractPatel et al. 2017
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Contributors

  • Sayeeda Hana: 27.03.2023

Edit History

  • Sayeeda Hana: 27.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.