NM_005957.4:c.665C>T

HGVS Expressions

  • NG_013351.1:g.14783C>T
  • NM_005957.4:c.665C>T
  • NM_001330358.1:c.788C>T
  • NP_005948.3:p.Ala222Val
  • NP_001317287.1:p.Ala263Val
  • NC_000001.11:g.11796321G>A
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Clinical Significance

Benign,Drug Response,Likely Benign,Pathogenic,Risk factor,Uncertain Significance

Variant Type

Substitution

dbSNP

1801133

Clinvar

3520

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
125853.G.8.1United Arab Emirates59AssociationDiabetes Mellitus, Noninsulin-DependentAl-Shamsi et al. 2016 209 T2DM patients (106 females). Associa...
125853.G.8.2United Arab Emirates47AssociationAl-Shamsi et al. 2016 169 Control subjects
188050.2Lebanon1PathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.3Lebanon2PathogenicThrombophilia due to thrombin defectHoteit et al. 2012
188050.4.G.1Lebanon5PathogenicThrombophilia due to thrombin defectKreidy et al. 2009 Study with 25 patients identified with i...
188050.G.2.1Lebanon10PathogenicThrombophilia due to thrombin defectHoteit et al. 2012 10 patients
188050.G.2.2Lebanon8PathogenicThrombophilia due to thrombin defectHoteit et al. 2012 4 patients
188055.G.2.4LebanonLikely PathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 14 patients with Factor V Leiden charact...
188055.G.3.2Lebanon2PathogenicThrombophilia due to thrombin defectKreidy et al. 2009 Study with 25 patients identified with i...
207600.1Bahrain2Uncertain SignificanceTakayasu ArteritisAl Jishi et al. 2005 Patient is comorbid for Takayasu arterit...
601367.1Lebanon2PathogenicStroke, IschemicHoteit et al. 2012
601367.10Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.14Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.15Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.17Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.2Lebanon1PathogenicStroke, IschemicHoteit et al. 2012
601367.20Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.21Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.22Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.23Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.24Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.25Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.27Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.29Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.32Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.34Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.4Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with spinal lesion
601367.9Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.G.1Lebanon4PathogenicStroke, IschemicHoteit et al. 2012 2 patients
603174.G.1LebanonAssociationHomocysteinemiaGhassibe-Sabbagh et al. 2012 1110 subjects with CAD
607093.G.1Lebanon79Sabbagh et al. 2008 205 healthy Lebanese controls. 63 hetero...
607093.G.2.1Lebanon147Almawi et al. 2005 251 healthy Lebanese males. 95 heterozyg...
607093.G.2.2Lebanon217Almawi et al. 2005 338 healthy Lebanese females. 139 hetero...
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.2.2Lebanon4PathogenicPregnancy Loss, Recurrent, Susceptibility to, 1Hoteit et al. 2012 2 patients
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