NM_138694.3:c.4870C>T

HGVS Expressions

  • NG_008753.1:g.67686C>T
  • NM_138694.3:c.4870C>T
  • NP_619639.3:p.Arg1624Trp
  • NC_000006.12:g.52024940G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

188369

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
263200.1.1Saudi Arabia2PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseAl-Hamed et al. 2016
263200.1.2Saudi Arabia1PathogenicAl-Hamed et al. 2016 Mother of 263200.1.1
263200.1.3Saudi Arabia1PathogenicAl-Hamed et al. 2016 Father of 263200.1.1
263200.2.1Saudi Arabia2PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseAl-Hamed et al. 2016
263200.2.2Saudi Arabia1PathogenicAl-Hamed et al. 2016 Mother of 263200.2.1
263200.2.3Saudi Arabia1PathogenicAl-Hamed et al. 2016 Father of 263200.2.1
263200.3.1Saudi Arabia2PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseAl-Hamed et al. 2016
263200.3.2Saudi Arabia1PathogenicAl-Hamed et al. 2016 Mother of 263200.3.1
263200.3.3Saudi Arabia1PathogenicAl-Hamed et al. 2016 Father of 263200.3.1
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