NM_001369.3:c.10050G>A - CAGS

NM_001369.3:c.10050G>A

HGVS Expressions

NG_013081.2:g.183454G>A
NM_001369.3:c.10050G>A
NP_001360.1:p.Trp3350Ter
NC_000005.10:g.13766027C>T

Associated Genes

Dynein, Axonemal, Heavy Chain 5

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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
608644.G.1	Palestine	4	Pathogenic	Ciliary Dyskinesia, Primary, 3	Rumman et al. 2023	Two patients from a family

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Contributors

Asha Deepthi: 26.03.2025

Edit History

Asha Deepthi: 26.03.2025

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© CAGS 2025. All rights reserved.