NM_000718.4:c.6377G>A - CAGS

NM_000718.4:c.6377G>A

HGVS Expressions

NG_042271.1:g.247981G>A
NM_000718.4:c.6377G>A
NP_000709.1:p.Arg2126His
NC_000009.12:g.138120769G>A

Associated Genes

Calcium Channel, Voltage-Dependent, N Type, Alpha-1B Subunit

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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
618497.1	Saudi Arabia	1	Uncertain Significance	Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements	Monies et al. 2017

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Contributors

Asha Deepthi: 18.03.2025

Edit History

Asha Deepthi: 18.03.2025

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© CAGS 2025. All rights reserved.