NM_001369.2:c.12704A>G - CAGS

NM_001369.2:c.12704A>G

HGVS Expressions

NG_013081.2:g.232165A>G
NM_001369.2:c.12704A>G
NP_001360.1:p.Lys4235Arg
NC_000005.10:g.13717316T>C

Associated Genes

Dynein, Axonemal, Heavy Chain 5

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CTGA Clinical Significance

Likely 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
608644.4	Saudi Arabia	2	Likely Pathogenic	Ciliary Dyskinesia, Primary, 3	Alhathal et al. 2020	No systemic manifestation of PCD

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Contributors

Pratibha Nair: 07.03.2023

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Pratibha Nair: 07.03.2023

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© CAGS 2025. All rights reserved.