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NC_012920.1:m.5591G>A
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NC_012920.1:m.5591G>A
HGVS Expressions
NC_012920.1:m.5591G>A
Associated Genes
Transfer RNA, Mitochondrial, Alanine
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121434458
Clinvar
9625
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
500009.1
United Arab Emirates
Pathogenic
Mitochondrial Myopathy, Infantile, Transient
Al-Shamsi et al. 2016
56-59% heteroplasmy
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Contributors
Pratibha Nair: 13.07.2020
Edit History
Pratibha Nair: 23.08.2022
Pratibha Nair: 13.07.2020
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Algeria
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Morocco
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Qatar
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Tunisia
United Arab Emirates
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Arab Countries with reported incidence
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