NM_000506.4:c.*97G>A

HGVS Expressions

  • NG_008953.1:g.25313G>A
  • NM_000506.4:c.*97G>A
  • NC_000011.10:g.46739505G>A

Associated Genes

Coagulation Factor II
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Clinical Significance

Pathogenic,Risk factor,Uncertain Significance

Variant Type

Substitution

dbSNP

1799963

Clinvar

13310

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
176930.G.1Lebanon3Likely BenignSabbagh et al. 2009 Study with 205 unrelated Lebanese indivi...
188050.2Lebanon1PathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.3Lebanon1PathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.4.1Lebanon1PathogenicThrombophilia due to thrombin defectKreidy et al. 2009 25 patients identified with inherited ge...
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
188050.G.3.1Lebanon56PathogenicThrombophilia due to thrombin defectIrani-Hakime et al. 2001 68 patients; 42 heterozygotes, 6 homozyg...
188050.G.3.2Lebanon30PathogenicIrani-Hakime et al. 2001 192 Lebanese controls; 28 heterozygotes,...
188055.G.1.1Lebanon20PathogenicThrombophilia due to Activated Protein C ResistanceTaher et al. 2001 16 patients out of a total of 40 with de...
188055.G.1.2Lebanon14PathogenicTaher et al. 2001 Study of 100 Lebanese control patients
188055.G.2.3LebanonLikely PathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 Group of 4 patients with Factor V Leiden...
188055.G.3.3Lebanon1PathogenicThrombophilia due to thrombin defect; Thrombophilia due to Activated Protein C ResistanceKreidy et al. 2009 Study with 25 patients identified with i...
600880.1Lebanon1PathogenicBudd-Chiari SyndromeMusallam et al, 2010 Patient later developed essential thromb...
601367.1Lebanon1PathogenicStroke, IschemicHoteit et al. 2012
601367.2Lebanon1PathogenicStroke, IschemicHoteit et al. 2012
601367.28Lebanon1Uncertain SignificanceStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.3Lebanon1Uncertain SignificanceStroke, IschemicAraji et al. 2014 Stroke patient with spinal lesion
601367.31Lebanon2Uncertain SignificanceStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.32Lebanon1Uncertain SignificanceStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.G.1Lebanon2PathogenicStroke, IschemicHoteit et al. 2012 2 patients
607339.G.2Lebanon10Likely BenignCoronary Heart Disease, Susceptibility to, 1Irani-Hakime et al. 2001 Study of 69 patients (44 males, 25 femal...
612309.1Lebanon14Zaatari et al. 2006 125 Lebanese controls
614389.1Lebanon1PathogenicPregnancy 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.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
614389.G.3.1Lebanon52PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Finan et al. 2002 110 patients; 7 homozygous, 38 heterozyg...
614389.G.3.2Lebanon11PathogenicFinan et al. 2002 67 Lebanese control females; 11 carriers
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