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NM_024996.5:c.521A>G
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NM_024996.5:c.521A>G
HGVS Expressions
NG_008441.1:g.7369A>G
NM_024996.5:c.521A>G
NP_079272.4:p.Asn174Ser
Associated Genes
Mitochondrial Elongation Factor G1
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Genomic Location
Chr3:158646896
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
119470018
Clinvar
4160
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609060.1.1
Lebanon
2
Pathogenic
Combined Oxidative Phosphorylation Deficiency 1
Coenen et al, 2004
609060.1.2
Lebanon
2
Pathogenic
Combined Oxidative Phosphorylation Deficiency 1
Coenen et al, 2004
Brother of 609060.1.1
609060.1.3
Lebanon
1
Pathogenic
Coenen et al, 2004
Mother of 609060.1.1 and 609060.1.2
609060.1.4
Lebanon
1
Pathogenic
Coenen et al, 2004
Father of 609060.1.1 and 609060.1.2
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Contributors
Pratibha Nair: 28.01.2019
Edit History
Pratibha Nair: 28.01.2019
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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
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Non-Arab Countries
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