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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Clinvar Clinical Significance

Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely 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 CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207600.1Bahrain2NAUncertain SignificanceTakayasu ArteritisAl Jishi et al. 2005 Patient is comorbid for Takayasu arterit...
601367.3Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with spinal 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
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
601367.36Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.37Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
125853.G.31.1United Arab Emirates2410.5765Likely BenignEl Hajj Chehadeh et al. 2016 209 diabetics. MTHFR c.665C>T SNP found ...
125853.G.31.2United Arab Emirates2070.6125Likely BenignEl Hajj Chehadeh 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...
607093.G.1Lebanon2010.49Sabbagh et al. 2008 205 healthy Lebanese controls. 63 hetero...
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