NM_006580.3:c.704C>A

HGVS Expressions

  • NG_008149.1:g.25374C>A
  • NM_006580.3:c.704C>A
  • NP_006571.1:p.Ser235Tyr

Associated Genes

Claudin 16
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Genomic Location

chr3:190408425

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5933

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248250.1.1Lebanon2PathogenicHypomagnesemia 3, RenalSanjad et al, 2007 Proband
248250.1.2Lebanon2PathogenicHypomagnesemia 3, RenalSanjad et al, 2007 Sister of 248250.1.1
248250.1.3Lebanon2PathogenicHypomagnesemia 3, RenalSanjad et al, 2007 Brother of 248250.1.1
248250.1.4Lebanon2PathogenicHypomagnesemia 3, RenalSanjad et al, 2007 Nephew of 248250.1.1
248250.1.5Lebanon1PathogenicSanjad et al, 2007 Unaffected brother of 248250.1.1; Father...
248250.1.6Lebanon1PathogenicSanjad et al, 2007 Unaffected sister of 248250.1.1
248250.1.7Lebanon1PathogenicSanjad et al, 2007 Unaffected father of 248250.1.1
248250.1.8Lebanon1PathogenicSanjad et al, 2007 Unaffected mother of 248250.1.1
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