NM_001080477.4:c.6006_6009del

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HGVS Expressions

  • NG_042859.1:g.554248_554251del
  • NM_001080477.4:c.6006_6009del
  • NP_001073946.1:p.Gln2003PhefsTer10
  • NC_000004.12:g.182792678_182792681del

Associated Genes

Teneurin Transmembrane Protein 3
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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
615145.1.1Egypt2PathogenicMicrophthalmia, Isolated, with Coloboma 9Maddirevula et al. 2020
615145.1.2Egypt1Maddirevula et al. 2020 Father of 615145.1.1
615145.1.3Egypt1Maddirevula et al. 2020 Mother of 615145.1.1
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Contributors

  • Sayeeda Hana: 21.11.2022

Edit History

  • Sayeeda Hana: 28.12.2022
  • Sayeeda Hana: 21.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.