NM_001170416.1:c.570_574dup

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HGVS Expressions

  • NG_016342.2:g.125115_125119dup
  • NM_001170416.1:c.570_574dup
  • NP_001163887.1:p.Leu192ProfsTer3
  • NC_000009.12:g.69221021_69221025dup

Associated Genes

Tight Junction Protein 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615219.7Kuwait2PathogenicCholestasis, Progressive Familial Intrahepatic, 4Shaheen et al. 2017 Patient has 2 distinct disorders- Hydroc...
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Contributors

  • Sayeeda Hana: 13.10.2022

Edit History

  • Sayeeda Hana: 13.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.