NM_138694.4:c.4417C>T

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  2. NM_138694.4:c.4417C>T

HGVS Expressions

  • NG_008753.1:g.67233C>T
  • NM_138694.4:c.4417C>T
  • NP_619639.3:p.Gln1473Ter

Associated Genes

PKHD1 Ciliary IPT Domain-Containing Fibrocystin/Polyductin
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Genomic Location

chr6:52025393

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554198717

Clinvar

556021

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.10Lebanon1Likely PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseJalkh et al. 2019
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Contributors

  • Pratibha Nair: 05.11.2020

Edit History

  • Pratibha Nair: 05.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.