NM_138694.4:c.7912-5T>G

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HGVS Expressions

  • NG_008753.1:g.244651T>G
  • NM_138694.4:c.7912-5T>G
  • NP_619639.3:p.?
  • NC_000006.12:g.51847975A>C

Associated Genes

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

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

371510537

Clinvar

96425

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.9Lebanon1Likely PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseJalkh et al. 2019
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Contributors

  • Pratibha Nair: 04.11.2020

Edit History

  • Sami Bizzari: 08.09.2022
  • Pratibha Nair: 04.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.