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NM_000108.5:c.1444A>G
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NM_000108.5:c.1444A>G
HGVS Expressions
NP_000099.2:p.Arg482Gly
NM_000108.5:c.1444A>G
NP_000099.2:p.Arg482Gly
Associated Genes
Dihydrolipoamide Dehydrogenase
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Genomic Location
chr7:107919079
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397514650
Clinvar
40187
Epidemiology in the Arab World
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Algeria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
246900.2.1
Algeria
2
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Odièvre et al. 2005;
Bonnefont et al, 1992
246900.2.2
Algeria
2
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Odièvre et al. 2005;
Bonnefont et al, 1992
Brother of 246900.2.1
246900.2.3
Algeria
2
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Odièvre et al. 2005;
Bonnefont et al, 1992
Brother of 246900.2.1
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Contributors
Sayeeda Hana: 02.09.2020
Edit History
Sayeeda Hana: 02.09.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
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Somalia
Sudan
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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