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NM_001308122.1:c.64_66TTC[1]
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NM_001308122.1:c.64_66TTC[1]
HGVS Expressions
NG_008982.2:g.5333_5335TTC[1]
NM_001308122.1:c.64_66TTC[1]
NP_003051.1:p.Phe23del
NC_000005.10:g.132370036_132370038TTC[1]
Associated Genes
Solute Carrier Family 22 (Organic Cation Transporter), Member 5
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
377767444
Clinvar
25353
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
212140.1.1
Lebanon
2
NA
Likely Pathogenic
Carnitine Deficiency, Systemic Primary
Shibbani et al. 2014
Patient 'A IV-6' in the publication
212140.1.2
Lebanon
1
NA
Shibbani et al. 2014
Father of 2121401.1
212140.1.3
Lebanon
1
NA
Shibbani et al. 2014
Mother of 2121401.1
212140.1.4
Lebanon
1
NA
Shibbani et al. 2014
Sister of 2121401.1
212140.1.5
Lebanon
1
NA
Shibbani et al. 2014
Sister of 2121401.1
212140.1.6
Lebanon
1
NA
Shibbani et al. 2014
Brother of 2121401.1
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Contributors
Edit History
Asha Deepthi: 15.03.2021
Sayeeda Hana: 26.09.2020
Asha Deepthi: 12.02.2019
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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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