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NM_000309.5:c.1015G>A
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NM_000309.5:c.1015G>A
HGVS Expressions
NG_012877.2:g.9046G>A
NM_000309.5:c.1015G>A
NP_001116236.1:p.Glu339Lys
Associated Genes
Protoporphyrinogen Oxidase
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Genomic Location
chr1:161170436
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
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
176200.1.1
Lebanon
2
Pathogenic
Variegate Porphyria
Al-Hage et al. 2020
Other affected relatives
176200.1.2
Lebanon
2
Pathogenic
Variegate Porphyria
Al-Hage et al. 2020
Maternal uncle of 176200.1.1
176200.1.3
Lebanon
1
Pathogenic
Al-Hage et al. 2020
Mother of 176200.1.1
176200.1.4
Lebanon
1
Pathogenic
Al-Hage et al. 2020
Father of 176200.1.1
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Contributors
Pratibha Nair: 13.10.2020
Edit History
Rahila Mir: 17.02.2022
Pratibha Nair: 13.10.2020
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Algeria
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Arab Countries with reported incidence
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