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NM_001324036.2:c.139T>C
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NM_001324036.2:c.139T>C
HGVS Expressions
NG_011557.2:g.12084T>C
NM_001324036.2:c.139T>C
NP_001310965.1:p.Ser47Pro
Associated Genes
Uroporphyrinogen III Synthase
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Genomic Location
chr10:125816185
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397515527
Clinvar
65600
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
263700.1
Lebanon
2
Pathogenic
Porphyria, Congenital Erythropoietic
Maakaron et al. 2012
Family history of beta-thalassemia
300604.1.1
Lebanon
2
Pathogenic
Premature Ovarian Failure 2B
Lacombe et al. 2006
Multiply consanguineous family, with mul...
300604.1.2
Lebanon
2
Pathogenic
Premature Ovarian Failure 2B
Lacombe et al. 2006
Sister of 300604.1.1
300604.1.3
Lebanon
2
Pathogenic
Premature Ovarian Failure 2B
Lacombe et al. 2006
Sister of 300604.1.1
300604.1.4
Lebanon
2
Pathogenic
Premature Ovarian Failure 2B
Lacombe et al. 2006
Sister of 300604.1.1
300604.1.5
Lebanon
2
Pathogenic
Premature Ovarian Failure 2B
Lacombe et al. 2006
Sister of 300604.1.1
300604.1.6
Lebanon
1
Pathogenic
Lacombe et al. 2006
Sister of 300604.1.1
300604.1.7
Lebanon
1
Pathogenic
Lacombe et al. 2006
Mother of 300604.1.1
Download Table
Contributors
Pratibha Nair: 02.04.2020
Edit History
Pratibha Nair: 02.04.2020
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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
Arab Countries without reported incidence
Non-Arab Countries
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