NM_138694.3:c.1736C>T

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HGVS Expressions

  • NG_008753.1:g.36939C>T
  • NM_138694.3:c.1736C>T
  • NP_619639.3:p.Thr579Met
  • NC_000006.12:g.52055687G>A

Associated Genes

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

Benign, Likely Benign

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

45500692

Clinvar

96381

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.7Saudi Arabia1PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseEdrees et al. 2016
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Contributors

  • Pratibha Nair: 05.12.2018

Edit History

  • Sami Bizzari: 12.09.2022
  • Pratibha Nair: 06.12.2018
  • Pratibha Nair: 05.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.