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NM_004387.4:c.618del
Home
NM_004387.4:c.618del
HGVS Expressions
NG_013340.1:g.7387del
NM_004387.4:c.618del
NP_004378.1:p.Leu207fs
NC_000005.10:g.173232929del
Associated Genes
NK2 Homeobox 5
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
587782929
Clinvar
156159
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
108900.2.1
Lebanon
1
Likely Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
108900.2.2
Lebanon
1
Likely Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Sister of 108900.2.1
108900.2.3
Lebanon
1
Likely Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Uncle of 108900.2.1
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Contributors
Sayeeda Hana: 27.08.2019
Edit History
Pratibha Nair: 09.06.2021
Sayeeda Hana: 27.08.2019
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