NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT

HGVS Expressions

  • NG_011648.1:g.16471_16472insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
  • NP_000780.1:p.?
  • NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT
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Clinvar Clinical Significance

Drug Response

CTGA Clinical Significance

Association, Benign, Likely Benign, Risk factor, Uncertain Significance

Variant Type

Insertion

dbSNP

1799752

Clinvar

375659

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207600.1Bahrain2Uncertain SignificanceTakayasu ArteritisAl Jishi et al. 2005 Patient is comorbid for Takayasu arterit...
601367.6Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with spinal lesion
601367.7Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.10Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with venous lesion
601367.16Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.20Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with arterial lesion
601367.21Lebanon1Risk 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
601367.31Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.32Lebanon1Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.33Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
601367.35Lebanon2Risk factorStroke, IschemicAraji et al. 2014 Stroke patient with small vessel lesion
106180.G.1.1 Lebanon42BenignSabbagh et al. 2007 133 healthy Lebanese individuals. 21 ind...
106180.G.1.2Lebanon60BenignSabbagh et al. 2007 133 healthy Lebanese individuals. 60 ind...
106180.G.2.1Lebanon162BenignMajor Depressive DisorderSaab et al. 2007 132 patients tested for association with...
106180.G.2.2Lebanon175BenignSaab et al. 2007 Healthy control group of 132 first-degre...
106180.G.3.1Lebanon840.27BenignSaab et al. 2007 Study with 570 healthy individuals. 51....
106180.G.3.2Lebanon2190.27BenignSaab et al. 2007 Study with 570 healthy individuals. 51.9...
106180.G.4.1 Lebanon240.471BenignChmaisse et al. 2009 Study with 51 T2DM patients and 40 contr...
106180.G.4.2Lebanon240.471BenignChmaisse et al. 2009 Study with 51 T2DM patients and 40 contr...
106180.G.4.3Lebanon220.438BenignChmaisse et al. 2009 Study with 51 T2DM patients and 40 contr...
106180.G.4.4Lebanon130.438BenignChmaisse et al. 2009 Study with 51 T2DM patients and 40 contr...
106180.G.5.1 Lebanon180.22Likely BenignSaab et al. 2011 Study with 124 hypertensive individuals
106180.G.5.2Lebanon370.22BenignSaab et al. 2011 Study with 124 hypertensive individuals
106180.G.5.3Lebanon240.28BenignSaab et al. 2011 Study with 146 normotensive individuals.
106180.G.5.4Lebanon580.28BenignSaab et al. 2011 Study with 146 normotensive individuals.
106180.G.6United Arab Emirates1480.34BenignObineche et al. 2001 Study with 98 Left Ventricular Hypertrop...
125853.G.13.1Lebanon32Risk factorType 2 Diabetes MellitusFawwaz et al. 2017 Group of 50 T2DM patients with diabetic ...
125853.G.13.2Lebanon57Type 2 Diabetes MellitusFawwaz et al. 2017 Group consisting of 64 T2DM patients wit...
125853.G.36.1United Arab Emirates220.32BenignType 2 Diabetes MellitusAl-Safar et al. 2013b 11 T2DM patients. No association was obs...
125853.G.36.2United Arab Emirates480.32BenignType 2 Diabetes MellitusAl-Safar et al. 2013b 48 T2DM patients. No association was obs...
125853.G.36.3United Arab Emirates280.36Al-Safar et al. 2013b 14 healthy (control) subjects
125853.G.36.4United Arab Emirates670.36Al-Safar et al. 2013b 67 healthy (control) subjects
125853.G.39.1United Arab Emirates1570.28Alsafar et al. 2015 277 diabetics
125853.G.39.2United Arab Emirates2170.37Alsafar et al. 2015 297 control subjects
145500.G.3.1Lebanon100AssociationHypertension, EssentialAkra-Ismail et al. 2010 Study with 115 hypertensive Lebanese sub...
145500.G.3.2Lebanon52AssociationHypertension, EssentialAkra-Ismail et al. 2010 Study with 115 hypertensive Lebanese sub...
145500.G.3.3Lebanon54AssociationAkra-Ismail et al. 2010 Study with 77 normotensive Lebanese cont...
145500.G.3.4Lebanon40AssociationAkra-Ismail et al. 2010 Study with 77 normotensive Lebanese cont...
145500.G.4.1United Arab Emirates610.36BenignFrossard et al. 1997 85 hypertensives (48 females)
145500.G.4.2United Arab Emirates480.33BenignFrossard et al. 1997 74 normotensives (44 females)
145500.G.11.1United Arab Emirates1390.30AssociationHypertension, Essential; ObesityAlsafar et al. 2015 235 hypertensives. Association only foun...
145500.G.11.2United Arab Emirates2310.35Alsafar et al. 2015 333 control subjects
176807.G.2.1Lebanon570.41AssociationProstate CancerEl Ezzi et al. 2020 69 Lebanese patients with Prostate cance...
176807.G.2.2Lebanon500.36AssociationProstatic Hyperplasia, BenignEl Ezzi et al. 2020 69 Lebanese patients with benign prostat...
176807.G.2.3Lebanon500.36AssociationEl Ezzi et al. 2020 69 Lebanese control subjects. 8 homozygo...
222100.G.1.1Kuwait1300.762AssociationType 1 Diabetes MellitusAlsaeid et al. 2004 Diabetic children with DD genotype (65 o...
222100.G.1.2Kuwait48AssociationType 1 Diabetes MellitusAlsaeid et al. 2004 Diabetic children with ID genotype (48 o...
607339.G.3.1Lebanon254AssociationCoronary Heart Disease, Susceptibility to, 1Abchee et al. 2010 127 patients. D allele found to be signi...
607339.G.3.2Lebanon131AssociationCoronary Heart Disease, Susceptibility to, 1Abchee et al. 2010 131 patients. D allele found to be signi...
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