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NM_001369.2:c.5563dup
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NM_001369.2:c.5563dup
HGVS Expressions
NG_013081.1:g.108429dup
NM_001369.2:c.5563dup
NP_001360.1:p.Ile1855AsnfsTer6
NC_000005.10:g.13841058dup
Associated Genes
Dynein, Axonemal, Heavy Chain 5
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
752925056
Clinvar
407241
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
608644.1.1
Lebanon
2
Pathogenic
Ciliary Dyskinesia, Primary, 3
Olbrich et al. 2002;
Omran et al. 2000
608644.1.2
Lebanon
2
Pathogenic
Ciliary Dyskinesia, Primary, 3
Olbrich et al. 2002;
Omran et al. 2000
Sibling of 608644.1.1
608644.1.3
Lebanon
2
Pathogenic
Ciliary Dyskinesia, Primary, 3
Olbrich et al. 2002;
Omran et al. 2000
Sibling of 608644.1.1
608644.1.4
Lebanon
2
Pathogenic
Ciliary Dyskinesia, Primary, 3
Olbrich et al. 2002;
Omran et al. 2000
Sibling of 608644.1.1
608644.1.5
Lebanon
1
Ciliary Dyskinesia, Primary, 3
Olbrich et al. 2002;
Omran et al. 2000
Mother of 608644.1.1
608644.1.6
Lebanon
1
Ciliary Dyskinesia, Primary, 3
Olbrich et al. 2002;
Omran et al. 2000
Father of 608644.1.1
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Contributors
Pratibha Nair: 26.04.2021
Edit History
Pratibha Nair: 26.04.2021
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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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