NM_000312.3:c.925G>A

HGVS Expressions

  • NG_016323.1:g.15066G>A
  • NM_000312.3:c.925G>A
  • NP_000303.1:p.Ala309Thr
  • NC_000002.12:g.127428485G>A

Associated Genes

Protein C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

662

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612304.4.1Lebanon2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveTjeldhorn et al. 2010
612304.4.2Lebanon2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveTjeldhorn et al. 2010 Daughter of 612304.4.1
612304.4.3Lebanon2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveTjeldhorn et al. 2010 Sister of 612304.4.1
612304.4.4Lebanon2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveTjeldhorn et al. 2010 Sister of 612304.4.1
612304.4.5Lebanon2PathogenicThrombophilia Due to Protein C Deficiency, Autosomal RecessiveTjeldhorn et al. 2010 Brother of 612304.4.1
612304.4.6Lebanon1PathogenicTjeldhorn et al. 2010 Father of 612304.4.1
612304.4.7Lebanon1PathogenicTjeldhorn et al. 2010 Mother of 612304.4.1
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