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NM_032340.4:c.214-3C>G
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NM_032340.4:c.214-3C>G
HGVS Expressions
NG_034147.1:g.16236C>G
NM_032340.4:c.214-3C>G
Associated Genes
Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2
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Genomic Location
chr6:33700516
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587777410
Clinvar
133295
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
615824.1.1
Lebanon
2
Pathogenic
Mitochondrial Complex III Deficiency, Nuclear Type 7
Tucker et al, 2013
The patient's father had a similar facia...
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Contributors
Sayeeda Hana: 25.02.2020
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Sayeeda Hana: 25.02.2020
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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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