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NM_001310338.2:c.456G>A
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NM_001310338.2:c.456G>A
HGVS Expressions
NG_042236.1:g.6425G>A
NM_001310338.2:c.456G>A
NP_001297267.1:p.Trp152Ter
NC_000020.11:g.17970315G>A
Associated Genes
Mitochondrial Genome Maintenance Exonuclease 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587776943
Clinvar
40051
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
615084.1.1
Lebanon
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 11
Kornblum et al. 2013
615084.1.2
Lebanon
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 11
Kornblum et al. 2013
Sibling of 615084.1.1
615084.1.3
Lebanon
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 11
Kornblum et al. 2013
Sibling of 615084.1.1
615084.1.4
Lebanon
1
Pathogenic
Kornblum et al. 2013
Father of 615084.1.1
615084.1.5
Lebanon
1
Pathogenic
Kornblum et al. 2013
Mother of 615084.1.1
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Contributors
Pratibha Nair: 26.03.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 26.03.2020
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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
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Non-Arab Countries
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