NM_032861.4:c.1379G>A - CAGS

NM_032861.4:c.1379G>A

HGVS Expressions

NG_032889.1:g.55530G>A
NM_032861.4:c.1379G>A
NP_116250.3:p.Trp460Ter
NC_000006.12:g.158117751C>T

Associated Genes

Serine Active Site-Containing Protein 1

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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
614739.G.1.1	Tunisia	6	Likely Pathogenic	3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome	Felhi et al. 2022	Three siblings (two males; one female). ...
614739.G.1.2	Tunisia	2			Felhi et al. 2022	Unaffected parents of 614739.G.1.1

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Contributors

Asha Deepthi: 19.03.2025

Edit History

Asha Deepthi: 19.03.2025

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© CAGS 2025. All rights reserved.