NM_138694.3:c.3539G>A

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  2. NM_138694.3:c.3539G>A

HGVS Expressions

  • NG_008753.1:g.64449G>A
  • NM_138694.3:c.3539G>A
  • NP_619639.3:p.Gly1180Glu
  • NC_000006.12:g.52028177C>T

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1581827172

Clinvar

636692

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.4.1Saudi Arabia2Likely PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseAl-Hamed et al. 2016 Presumed homozygous
263200.4.2Saudi Arabia1Likely PathogenicAl-Hamed et al. 2016 Mother of 263200.4.1
263200.4.3Saudi Arabia1Likely PathogenicAl-Hamed et al. 2016 Father of 263200.4.1
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Contributors

  • Pratibha Nair: 05.12.2018

Edit History

  • Sami Bizzari: 12.09.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 06.12.2018
  • Pratibha Nair: 05.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.