NM_178526.5:c.871A>G - CAGS

NM_178526.5:c.871A>G

HGVS Expressions

NG_050576.1:g.51830A>G
NM_178526.5:c.871A>G
NP_848621.2:p.Asn291Asp
NC_000019.10:g.19110790A>G

Associated Genes

Solute Carrier Family 25, Member 42

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Saudi Arabia

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
618416.1	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Shamseldin et al. 2016
618416.2	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Maddirevula et al. 2019
618416.3	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.4	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.5	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.6	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.7	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.8	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.9	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.10	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.11	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019
618416.12	Saudi Arabia	2		Likely Pathogenic	Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression	Monies et al. 2019

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Contributors

Pratibha Nair: 17.10.2022

Edit History

Pratibha Nair: 27.11.2023
Pratibha Nair: 17.10.2022

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.