NM_153240.5:c.3420_3421insA

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HGVS Expressions

  • NG_008130.2:g.42729_42730insA
  • NM_153240.5:c.3420_3421insA
  • NP_694972.3:p.Leu1141ThrfsTer7
  • NC_000003.12:g.132684703_132684704insT

Associated Genes

Nephrocystin 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604387.1Saudi Arabia2Likely PathogenicNephronophthisis 3Monies et al. 2019
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Contributors

  • Pratibha Nair: 05.12.2023

Edit History

  • Pratibha Nair: 05.12.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.