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NM_000282.4:c.2158_2159insT
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NM_000282.4:c.2158_2159insT
HGVS Expressions
NG_008768.1:g.446055_446056insT
NM_000282.4:c.2158_2159insT
NP_000273.2:p.Glu720ValfsTer14
NC_000013.11:g.100530137_100530138insT
Associated Genes
Propionyl-CoA Carboxylase, Alpha Subunit
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Insertion
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
606054.6.1
United Arab Emirates
2
Likely Pathogenic
Propionic Acidemia
Sakrani et al. 2021
Proband. She has a healthy sibling
606054.6.2
United Arab Emirates
1
Sakrani et al. 2021
Father of the proband
606054.6.3
United Arab Emirates
1
Sakrani et al. 2021
Mother of the proband
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Contributors
Sami Bizzari: 07.03.2022
Edit History
Sami Bizzari: 07.03.2022
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Algeria
Bahrain
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Arab Countries with reported incidence
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