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NM_000282.4:c.1598_1601del
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NM_000282.4:c.1598_1601del
HGVS Expressions
NG_008768.1:g.256132_256135del
NM_000282.4:c.1598_1601del
NP_000273.2:p.Phe533TrpfsTer5
NC_000013.11:g.100340214_100340217del
Associated Genes
Propionyl-CoA Carboxylase, Alpha Subunit
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Microsatellite
dbSNP
1344574242
Clinvar
1070049
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.Gr.1
United Arab Emirates
4
Pathogenic
Propionic Acidemia
Al-Shamsi et al. 2014
Two patients with propionyl acidemia
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Contributors
Pratibha Nair: 10.08.2020
Edit History
Sami Bizzari: 07.02.2023
Pratibha Nair: 21.11.2022
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 10.08.2020
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