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NM_000016.6:c.362C>T
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NM_000016.6:c.362C>T
HGVS Expressions
NG_007045.2:g.14246C>T
NM_000016.6:c.362C>T
NP_000007.1:p.Thr121Ile
NC_000001.11:g.75733603C>T
Associated Genes
Acyl-CoA Dehydrogenase, Medium-Chain
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Clinvar Clinical Significance
Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
121434283
Clinvar
3599
Epidemiology in the Arab World
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All Countries
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
201450.G.1.1
Saudi Arabia
36
Pathogenic
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of
Al-Hassnan et al. 2010
18 patients with MCAD deficiency
201450.G.1.2
Saudi Arabia
2
Pathogenic
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of
Al-Hassnan et al. 2010
2 compound heterozygous patients with MC...
201450.G.3
United Arab Emirates
Likely Pathogenic
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency of
Al-Jasmi at al. 2016
Mutations identified in four Emiratis
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Contributors
Edit History
Asha Deepthi: 24.06.2021
Asha Deepthi: 15.06.2020
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