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NM_002225.5:c.1175G>A
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NM_002225.5:c.1175G>A
HGVS Expressions
NG_011986.2:g.17729G>A
NM_002225.5:c.1175G>A
NP_002216.3:p.Arg392His
NC_000015.10:g.40418166G>A
Associated Genes
Isovaleryl-CoA Dehydrogenase
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
982218848
Clinvar
623383
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
243500.5.1
United Arab Emirates
2
Pathogenic
Isovaleric Acidemia
Hertecant et al. 2012
Index patient
243500.5.2
United Arab Emirates
2
Pathogenic
Isovaleric Acidemia
Hertecant et al. 2012
Sister of 243500.5.1
243500.5.3
United Arab Emirates
2
Pathogenic
Isovaleric Acidemia
Hertecant et al. 2012
Sister of 243500.5.1
243500.5.4
United Arab Emirates
2
Pathogenic
Isovaleric Acidemia
Hertecant et al. 2012
Sibling of 243500.5.1
243500.G.2
United Arab Emirates
2+
Pathogenic
Isovaleric Acidemia
Al-Shamsi et al. 2014
Group of unknown number of Emirati IVA p...
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Contributors
Sayeeda Hana: 26.08.2020
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 23.08.2022
Sayeeda Hana: 26.08.2020
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Algeria
Bahrain
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Libya
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Morocco
Oman
Palestine
Qatar
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Somalia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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