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NM_004387.4:c.461A>G
Home
NM_004387.4:c.461A>G
HGVS Expressions
NG_013340.1:g.7230A>G
NM_004387.4:c.461A>G
NP_004378.1:p.Glu154Gly
Associated Genes
NK2 Homeobox 5
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Genomic Location
chr5:173233083
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587782928
Clinvar
156158
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
108900.3.1
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
108900.3.2
Lebanon
1
Pathogenic
Abou Hassan et al, 2015
Unaffected daughter of 108900.3.1
108900.3.3
Lebanon
1
Pathogenic
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Son of 108900.3.1
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Contributors
Sayeeda Hana: 27.08.2019
Edit History
Sayeeda Hana: 27.08.2019
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Algeria
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Arab Countries with reported incidence
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