NM_130810.4:c.384_390del - CAGS

NM_130810.4:c.384_390del

HGVS Expressions

NG_021213.1:g.22091_22097del
NM_130810.4:c.384_390del
NP_570722.2:p.Tyr128Ter
NC_000015.10:g.55491140_55491146del

Associated Genes

Dynein, Axonemal, Assembly Factor 4

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Clinvar Clinical Significance

Likely 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
615482.G.1	Palestine	6	Pathogenic	Ciliary Dyskinesia, Primary, 25	Rumman et al. 2023	Three patients from three families

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Contributors

Asha Deepthi: 25.03.2025

Edit History

Asha Deepthi: 25.03.2025

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© CAGS 2025. All rights reserved.