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NM_000130.4:c.1601G>A
Home
NM_000130.4:c.1601G>A
HGVS Expressions
NG_011806.1:g.41721G>A
NM_000130.4:c.1601G>A
NP_000121.2:p.Arg534Gln
NC_000001.11:g.169549811C>T
Associated Genes
Coagulation Factor V
Back to search Result
Clinvar Clinical Significance
Benign, Pathogenic, Risk factor
CTGA Clinical Significance
Likely Pathogenic, Pathogenic, Risk factor
Variant Type
Substitution
dbSNP
6025
Clinvar
642
Epidemiology in the Arab World
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Lebanon
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25
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100
entries
Search:
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
188050.2
Lebanon
2
NA
Pathogenic
Thrombophilia due to thrombin defect
Hoteit et al. 2012
188050.3
Lebanon
2
NA
Pathogenic
Thrombophilia due to thrombin defect
Hoteit et al. 2012
188055.1.1
Lebanon
2
Pathogenic
Thrombophilia due to Activated Protein C Resistance
Kreidy et al. 2009
Study with 25 patients identified with i...
601367.1
Lebanon
2
NA
Pathogenic
Stroke, Ischemic
Hoteit et al. 2012
601367.2
Lebanon
1
NA
Pathogenic
Stroke, Ischemic
Hoteit et al. 2012
601367.5
Lebanon
1
Risk factor
Stroke, Ischemic
Araji et al. 2014
Stroke patient with spinal lesion
601367.6
Lebanon
1
Risk factor
Stroke, Ischemic
Araji et al. 2014
Stroke patient with spinal lesion
601367.7
Lebanon
1
Risk factor
Stroke, Ischemic
Araji et al. 2014
Stroke patient with venous lesion
601367.10
Lebanon
1
Risk factor
Stroke, Ischemic
Araji et al. 2014
Stroke patient with venous lesion
601367.14
Lebanon
1
Risk factor
Stroke, Ischemic
Araji et al. 2014
Stroke patient with venous lesion
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Contributors
Asha Deepthi: 21.05.2019
Edit History
Sayeeda Hana: 22.03.2021
Sami Bizzari: 17.03.2021
Asha Deepthi: 01.03.2021
Asha Deepthi: 28.02.2021
Asha Deepthi: 13.10.2020
Pratibha Nair: 21.06.2020
Pratibha Nair: 15.06.2020
Pratibha Nair: 07.06.2020
Asha Deepthi: 21.05.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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العربية
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العربية
Home
About Us
CTGA Database
CTGA Overview
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Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
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News
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Contact Us