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NM_000108.5:c.685G>T
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NM_000108.5:c.685G>T
HGVS Expressions
NG_008045.1:g.29366G>T
NM_000108.5:c.685G>T
NP_000099.2:p.Gly229Cys
NC_000007.14:g.107915506G>T
Associated Genes
Dihydrolipoamide Dehydrogenase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
121964990
Clinvar
11966
Epidemiology in the Arab World
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All Countries
Palestine
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
246900.1.1
Palestine
2
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Hong et al. 2003
The patient had two older siblings that ...
246900.1.2
Palestine
2
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Hong et al. 2003
Brother of 246900.1.1
246900.5
United Arab Emirates
2
Likely Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Al-Jasmi et al. 2016
246900.6
Saudi Arabia
2
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Monies et al. 2017
246900.G.1
United Arab Emirates
4
Pathogenic
Dihydrolipoamide Dehydrogenase Deficiency
Al-Shamsi et al. 2014
Group of 2 patients
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Contributors
Sayeeda Hana: 02.09.2020
Edit History
Asha Deepthi: 02.10.2024
Pratibha Nair: 23.08.2022
Pratibha Nair: 30.06.2022
Sayeeda Hana: 02.09.2020
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