NM_000490.5:c.20C>T

HGVS Expressions

  • NG_008663.1:g.5070C>T
  • NM_000490.5:c.20C>T
  • NP_000481.2:p.Pro7Leu
  • NC_000020.11:g.3084655G>A

Associated Genes

Arginine Vasopressin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

12219

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125700.1.1Lebanon1PathogenicDiabetes Insipidus, Neurohypophyseal TypeBourdet et al, 2016 Patient born to a Lebanese father and a ...
125700.1.2Lebanon1PathogenicBourdet et al, 2016 Father of 125700.1.1
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