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NM_000532.5:c.1519C>T
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NM_000532.5:c.1519C>T
HGVS Expressions
NG_008939.1:g.84601C>T
NM_000532.5:c.1519C>T
NP_000523.2:p.Gln507Ter
NC_000003.12:g.136329925C>T
Associated Genes
Propionyl-Coa Carboxylase, Beta Subunit
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Clinvar
1451153
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
606054.5
United Arab Emirates
2
NA
Likely Pathogenic
Propionic Acidemia
Al-Jasmi at al. 2016
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Contributors
Asha Deepthi: 14.06.2021
Edit History
Pratibha Nair: 10.11.2022
Rahila Mir: 10.02.2022
Asha Deepthi: 14.06.2021
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