NM_000085.5:c.1324G>A

HGVS Expressions

  • NG_013079.2:g.12956G>A
  • NM_000085.5:c.1324G>A
  • NP_000076.2:p.Glu442Lys
  • NC_000001.11:g.16051736G>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3064072

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607364.2Saudi Arabia2Likely PathogenicBartter Syndrome, Type 3Monies et al. 2017
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