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NM_198843.2:c.401delT
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NM_198843.2:c.401delT
HGVS Expressions
NG_016967.1:g.7097del
NM_198843.2:c.401delT
NP_942140.2:p.Leu134ArgfsTer93
NC_000002.12:g.85666645del
Associated Genes
Surfactant, Pulmonary-Associated Protein B
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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
265120.1.1
Lebanon
2
Pathogenic
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ferzli et al., 2006
Had a similarly affected sister by histo...
265120.1.2
Lebanon
1
Pathogenic
Ferzli et al., 2006
Mother of 265120.1.1
265120.1.3
Lebanon
1
Pathogenic
Ferzli et al., 2006
Father of 265120.1.1
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Contributors
Pratibha Nair: 08.01.2019
Edit History
Pratibha Nair: 08.11.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 26.09.2020
Pratibha Nair: 08.01.2019
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Arab Countries with reported incidence
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