NM_138694.3:c.10628T>G

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HGVS Expressions

  • NG_008753.1:g.433128T>G
  • NM_138694.3:c.10628T>G
  • NP_619639.3:p.Leu3543Trp
  • NC_000006.12:g.51659498A>C

Associated Genes

PKHD1 Ciliary IPT Domain-Containing Fibrocystin/Polyductin
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.8Saudi Arabia2PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseEdrees et al. 2016
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Contributors

  • Pratibha Nair: 05.12.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Rahila Mir: 22.02.2022
  • Pratibha Nair: 06.12.2018
  • Pratibha Nair: 05.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.