NM_000454.4:c.352C>G - CAGS

NM_000454.4:c.352C>G

HGVS Expressions

NG_008689.1:g.12749C>G
NM_000454.4:c.352C>G
NP_000445.1:p.Leu118Val
NC_000021.9:g.31667370C>G

Associated Genes

Superoxide Dismutase 1

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Lebanon

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
105400.1	Lebanon	1		Likely Pathogenic	Amyotrophic Lateral Sclerosis 1	Jalkh et al. 2019
105400.G.1	Lebanon	8		Pathogenic	Amyotrophic Lateral Sclerosis 1	Megarbane et al. 2022	8 patients from 6 families. Clinical fea...

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Contributors

Sami Bizzari: 20.03.2023

Edit History

Sami Bizzari: 20.03.2023

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.