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NM_004387.4:c.809G>A
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NM_004387.4:c.809G>A
HGVS Expressions
NG_013340.1:g.7578G>A
NM_004387.4:c.809G>A
NP_004378.1:p.Cys270Tyr
NC_000005.10:g.173232735C>T
Associated Genes
NK2 Homeobox 5
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Clinvar Clinical Significance
Likely Benign, Uncertain Significance
CTGA Clinical Significance
Likely Benign
Variant Type
Substitution
dbSNP
587782931
Clinvar
156161
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
108900.4.1
Lebanon
1
Likely Benign
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
108900.4.2
Lebanon
1
Likely Benign
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects
Abou Hassan et al, 2015
Sibling of 108900.4.1
108900.4.3
Lebanon
1
Likely Benign
Abou Hassan et al, 2015
Unaffected mother of 108900.4.1
108900.4.4
Lebanon
1
Likely Benign
Abou Hassan et al, 2015
Unaffected uncle of 108900.4.1
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Contributors
Sayeeda Hana: 27.08.2019
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 27.08.2019
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Algeria
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Palestine
Qatar
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Arab Countries with reported incidence
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