NM_014625.4:c.779T>A

HGVS Expressions

  • NG_007535.1:g.26459T>A
  • NM_014625.4:c.779T>A
  • NP_055440.1:p.Val260Glu
  • NC_000001.11:g.179554491A>T

Associated Genes

Podocin
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

447882

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600995.1United Arab Emirates2PathogenicNephrotic Syndrome, Type 2Al-Gazali and Ali, 2010
600995.2United Arab Emirates2PathogenicNephrotic Syndrome, Type 2Al-Gazali and Ali, 2010
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