NM_138694.3:c.2027C>G

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HGVS Expressions

  • NG_008753.1:g.39437C>G
  • NM_138694.3:c.2027C>G
  • NP_619639.3:p.Pro676Arg
  • NC_000006.12:g.52053189G>C

Associated Genes

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

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

115045643

Clinvar

96383

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.6Saudi Arabia1Likely BenignPolycystic 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
  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 06.12.2018
  • Pratibha Nair: 05.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.