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NM_020166.5:c.1106C>G
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NM_020166.5:c.1106C>G
HGVS Expressions
NG_008100.1:g.62850C>G
NM_020166.5:c.1106C>G
NP_064551.3:p.Pro369Arg
NC_000003.12:g.183041728G>C
Associated Genes
3-Methylcrotonyl-CoA Carboxylase 1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
749352296
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
210200.G.1
United Arab Emirates
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
Al-Shamsi et al. 2014
3 mutations identified in unknown number...
210200.G.2
United Arab Emirates
NA
NA
Likely Pathogenic
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
Al-Jasmi at al. 2016
Mutations identified in unknown number o...
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Contributors
Edit History
Rahila Mir: 10.02.2022
Asha Deepthi: 22.06.2021
Asha Deepthi: 23.06.2020
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