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NC_012920.1:m.12299A>C
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NC_012920.1:m.12299A>C
HGVS Expressions
NC_012920.1:m.12299A>C
Associated Genes
Transfer RNA, Mitochondrial, Leucine, 2
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Genomic Location
chrMT:12299
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
540000.1.1
Saudi Arabia
Pathogenic
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Abu-Amero et al. 2006
Patient is 65% and 80% heteroplasmic for...
540000.1.2
Saudi Arabia
Pathogenic
Abu-Amero et al. 2006
Mother of patient 540000.1.1 who is 30% ...
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Contributors
Sami Bizzari: 28.04.2020
Edit History
Rahila Mir: 17.02.2022
Sami Bizzari: 14.05.2020
Sami Bizzari: 28.04.2020
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