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NM_004387.4:c.721_728del
Home
NM_004387.4:c.721_728del
HGVS Expressions
NG_013340.1:g.7490_7497del
NM_004387.4:c.721_728del
NP_004378.1:p.Tyr241fs
Associated Genes
NK2 Homeobox 5
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Genomic Location
chr5:173232816-173232823
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
587782930
Clinvar
156160
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
108900.1.01
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
108900.1.02
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Brother of 108900.1.01
108900.1.03
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Nephew of 108900.1.01
108900.1.04
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Nephew of 108900.1.01
108900.1.05
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Niece of 108900.1.01
108900.1.06
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Niece of 108900.1.01
108900.1.07
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Niece of 108900.1.01
108900.1.08
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Nephew of 108900.1.01
108900.1.09
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Great-niece of 108900.1.01
108900.1.10
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Great-niece of 108900.1.01
108900.1.11
Lebanon
1
Pathogenic
Abou Hassan et al, 2015
Unaffected great-nephew of 108900.1.01
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Contributors
Sayeeda Hana: 27.08.2019
Edit History
Sayeeda Hana: 26.09.2020
Sayeeda Hana: 27.08.2019
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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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