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NM_000282.3c.1209+3A>G
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NM_000282.3c.1209+3A>G
HGVS Expressions
NG_008768.1:g.217524A>G
NM_000282.3c.1209+3A>G
Associated Genes
Propionyl-CoA Carboxylase, Alpha Subunit
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Genomic Location
chr13:100301606
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1467680142
Clinvar
553422
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
606054.1
Lebanon
2
Pathogenic
Propionic Acidemia
Nair et al. 2018
Has affected siblings
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Contributors
Pratibha Nair: 22.04.2020
Edit History
Pratibha Nair: 22.04.2020
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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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