NM_000130.4:c.3980A>G

HGVS Expressions

  • NG_011806.1:g.50422A>G
  • NM_000130.4:c.3980A>G
  • NP_000121.2:p.His1327Arg
  • NC_000001.11:g.169541110T>C

Associated Genes

Coagulation Factor V
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Clinical Significance

Benign,Likely Benign

Variant Type

Substitution

dbSNP

1800595

Clinvar

37345

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
188055.G.2.4LebanonLikely PathogenicThrombophilia due to Activated Protein C ResistanceKreidy. 2012 14 patients with Factor V Leiden charact...
601367.11Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.13Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.19Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.23Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.26Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.28Lebanon1Risk 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
601367.8Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
612309.1Lebanon15Likely BenignZaatari et al. 2006 125 Lebanese controls
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