NM_005957.4:c.1286A>C

HGVS Expressions

  • NG_013351.1:g.16685A>C
  • NM_005957.4:c.1286A>C
  • NM_001330358.1:c.1409A>C
  • NP_005948.3:p.Glu429Ala
  • NP_001317287.1:p.Glu470Ala
  • NC_000001.11:g.11794419T>G
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Clinical Significance

Benign,Likely Pathogenic,Risk factor,Uncertain Significance

Variant Type

Substitution

dbSNP

1801131

Clinvar

3521

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
125853.G.8.1United Arab Emirates241AssociationDiabetes Mellitus, Noninsulin-DependentAl-Shamsi et al. 2016 209 T2DM patients (106 females). Associa...
125853.G.8.2United Arab Emirates207AssociationDiabetes Mellitus, Noninsulin-DependentAl-Shamsi et al. 2016 169 Control subjects
188055.G.2.4LebanonLikely PathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 14 patients with Factor V Leiden charact...
207600.1Bahrain2Uncertain SignificanceTakayasu ArteritisAl Jishi et al. 2005 Patient is comorbid for Takayasu arterit...
601367.12Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.13Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.14Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.16Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.18Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.19Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.26Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.27Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.28Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.3Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with spinal lesion
601367.36Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.37Lebanon2Risk 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
601367.8Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
607093.G.1Lebanon201Sabbagh et al. 2008 205 healthy Lebanese controls. 63 hetero...
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