NM_000130.4:c.1601G>A

HGVS Expressions

  • NG_011806.1:g.41721G>A
  • NM_000130.4:c.1601G>A
  • NP_000121.2:p.Arg534Gln
  • NC_000001.11:g.169549811C>T

Associated Genes

Coagulation Factor V
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Clinvar Clinical Significance

Benign, Pathogenic, Risk factor

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Risk factor

Variant Type

Substitution

dbSNP

6025

Clinvar

642

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
188050.2Lebanon2NAPathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.3Lebanon2NAPathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188055.1.1Lebanon2PathogenicThrombophilia due to Activated Protein C ResistanceKreidy et al. 2009 Study with 25 patients identified with i...
601367.1Lebanon2NAPathogenicStroke, IschemicHoteit et al. 2012
601367.2Lebanon1NAPathogenicStroke, IschemicHoteit et al. 2012
601367.5Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with spinal lesion
601367.6Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with spinal lesion
601367.7Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.10Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.14Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.18Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.20Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.24Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.27Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.32Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.36Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.37Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
612309.1Lebanon3Zaatari et al. 2006 125 Lebanese controls
614389.1Lebanon2NAPathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Hoteit et al. 2012
614389.2.1Lebanon1Likely PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Khalife and Tadmouri, 2020 Index patient
614389.2.2Lebanon1Likely PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Khalife and Tadmouri, 2020 Mother of the index patient
614389.2.3Lebanon1Likely PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Khalife and Tadmouri, 2020 Sister of the index patient
188050.G.2.1Lebanon10NAPathogenicThrombophilia due to thrombin defectHoteit et al. 2012 10 patients
188050.G.2.2Lebanon4NAPathogenicThrombophilia due to thrombin defectHoteit et al. 2012 4 patients
188055.G.2.1Lebanon2NAPathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 Group of 5 patients
188055.G.2.2Lebanon1NAPathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 Group of 32 patients
188055.G.2.3LebanonPathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 Group of 4 patients with Factor V Leiden...
188055.G.2.4LebanonPathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 14 patients with Factor V Leiden charact...
188055.G.3.1Lebanon12PathogenicThrombophilia due to Activated Protein C ResistanceKreidy et al. 2009 Study with 25 patients identified with i...
188055.G.3.2Lebanon2PathogenicThrombophilia due to Activated Protein C ResistanceKreidy et al. 2009 Study with 25 patients identified with i...
188055.G.3.3Lebanon1PathogenicThrombophilia due to Activated Protein C ResistanceKreidy et al. 2009 Study with 25 patients identified with i...
601367.G.1Lebanon2NAPathogenicStroke, IschemicHoteit et al. 2012 2 patients
612309.G.1Lebanon267.4%Irani-Hakime et al. 2000 25 individuals out of 174 healthy Lebane...
614389.G.2.1Lebanon2NAPathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Hoteit et al. 2012 2 patients
614389.G.2.2Lebanon2NAPathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Hoteit et al. 2012 2 patients
614390.G.1Lebanon150.068PathogenicPregnancy Loss, Recurrent, Susceptibility to, 2 Finan et al. 2002 110 patients; 15 heterozygous
614390.G.2Lebanon20.015PathogenicFinan et al. 2002 67 Lebanese control women; 2 heterozygou...
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