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NM_024884.2:c.467G>T
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NM_024884.2:c.467G>T
HGVS Expressions
NG_008092.1:g.23042G>T
NM_024884.2:c.467G>T
NP_079160.1:p.Gly156Val
NC_000014.9:g.50294188C>A
Associated Genes
L-2-Hydroxyglutarate Dehydrogenase
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
236792.2.1
Saudi Arabia
1
NA
Likely Pathogenic
L-2-Hydroxyglutaric Aciduria
Sass et al. 2008
Patient from family 'F7' in the publicat...
236792.2.2
Saudi Arabia
1
NA
Likely Pathogenic
L-2-Hydroxyglutaric Aciduria
Sass et al. 2008
Patient from family 'F7' in the publicat...
236792.2.3
Saudi Arabia
1
NA
Likely Pathogenic
L-2-Hydroxyglutaric Aciduria
Sass et al. 2008
Patient from family 'F7' in the publicat...
236792.2.4
Saudi Arabia
1
NA
Likely Pathogenic
L-2-Hydroxyglutaric Aciduria
Sass et al. 2008
Patient from family 'F7' in the publicat...
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Contributors
Edit History
Asha Deepthi: 03.03.2021
Asha Deepthi: 29.11.2018
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