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NM_001609.3:c.303+3A>G
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NM_001609.3:c.303+3A>G
HGVS Expressions
NG_008003.1:g.33938A>G
NM_001609.3:c.303+3A>G
Associated Genes
Acyl-CoA Dehydrogenase, Short/Branched Chain
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Genomic Location
Chr10:123037850
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1345480688
Epidemiology in the Arab World
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All Countries
Eritrea
Somalia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
610006.1.1
Eritrea
1
Pathogenic
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Gibson et al. 2000;
Madsen et al. 2006
Compound heterozygous
610006.1.2
Eritrea
1
Pathogenic
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Gibson et al. 2000;
Madsen et al. 2006
Sister of 610006.1.1; Prenatally diagnos...
610006.2.1
Somalia
2
Pathogenic
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Madsen et al. 2006
610006.2.2
Somalia
1
Pathogenic
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Madsen et al. 2006
Mother of 610006.2.1
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Contributors
Pratibha Nair: 08.10.2018
Edit History
Rahila Mir: 17.02.2022
Pratibha Nair: 23.01.2019
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