NM_024884.3:c.528G>T - CAGS

NM_024884.3:c.528G>T

HGVS Expressions

NG_008092.1:g.23103G>T
NM_024884.3:c.528G>T
NP_079160.1:p.Glu176Asp
NC_000014.9:g.50294127C>A

Associated Genes

L-2-Hydroxyglutarate Dehydrogenase

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
236792.5.1	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004
236792.5.2	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004	Sibling of 236792.5.1
236792.5.3	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004
236792.5.4	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004
236792.5.5	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004
236792.5.6	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004
236792.5.7	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004
236792.5.8	Lebanon	2		Likely Pathogenic	L-2-Hydroxyglutaric Aciduria	Rzem et al, 2004

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Contributors

Pratibha Nair: 05.02.2020

Edit History

Pratibha Nair: 10.06.2021
Pratibha Nair: 09.06.2021
Pratibha Nair: 05.02.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.