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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Clinical Significance

Benign,Pathogenic,Risk factor

Variant Type

Substitution

dbSNP

6025

Clinvar

642

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
188050.2Lebanon2PathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.3Lebanon2PathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.G.2.1Lebanon10PathogenicThrombophilia due to thrombin defectHoteit et al. 2012 10 patients
188050.G.2.2Lebanon4PathogenicThrombophilia due to thrombin defectHoteit et al. 2012 4 patients
188055.1.1Lebanon2PathogenicThrombophilia due to Activated Protein C ResistanceKreidy et al. 2009 Study with 25 patients identified with i...
188055.G.2.1Lebanon2PathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 Group of 5 patients
188055.G.2.2Lebanon1PathogenicThrombophilia 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...
601367.1Lebanon2PathogenicStroke, IschemicHoteit et al. 2012
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
601367.2Lebanon1PathogenicStroke, IschemicHoteit et al. 2012
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
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.G.1Lebanon2PathogenicStroke, IschemicHoteit et al. 2012 2 patients
612309.1Lebanon3Zaatari et al. 2006 125 Lebanese controls
612309.G.1Lebanon26Irani-Hakime et al. 2000 25 individuals out of 174 healthy Lebane...
614389.1Lebanon2PathogenicPregnancy 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
614389.G.2.1Lebanon2PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Hoteit et al. 2012 2 patients
614389.G.2.2Lebanon2PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Hoteit et al. 2012 2 patients
614390.G.1Lebanon15PathogenicPregnancy Loss, Recurrent, Susceptibility to, 2 Finan et al. 2002 110 patients; 15 heterozygous
614390.G.2Lebanon2PathogenicFinan et al. 2002 67 Lebanese control women; 2 heterozygous
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