NM_001386393.1:c.846_847del - CAGS

NM_001386393.1:c.846_847del

HGVS Expressions

NG_008131.3:g.26933_26934del
NM_001386393.1:c.846_847del
NP_001373322.1:p.Val284Ter
NC_000020.11:g.3910771_3910772del

Associated Genes

Pantothenate Kinase 2

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
234200.3	Morocco	2	Pathogenic	Neurodegeneration with Brain Iron Accumulation 1	Efthymiou et al. 2020
234200.3.2	Morocco	1			Efthymiou et al. 2020	Father of 234200.3.1

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Contributors

Sayeeda Hana: 29.01.2025

Edit History

Sayeeda Hana: 29.01.2025

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© CAGS 2025. All rights reserved.