NM_001369.2:c.4807C>A - CAGS

NM_001369.2:c.4807C>A

HGVS Expressions

NG_013081.2:g.89886C>A
NM_001369.2:c.4807C>A
NP_001360.1:p.Pro1603Thr
NC_000005.10:g.13859595G>T

Associated Genes

Dynein, Axonemal, Heavy Chain 5

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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

United Arab Emirates

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Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
608644.3.1	United Arab Emirates	2	Likely Pathogenic	Ciliary Dyskinesia, Primary, 3	Alsamri et al. 2021
608644.3.2	United Arab Emirates	2	Likely Pathogenic	Ciliary Dyskinesia, Primary, 3	Alsamri et al. 2021	Sibling of 608644.3.1

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Contributors

Pratibha Nair: 01.09.2022

Edit History

Pratibha Nair: 20.02.2023
Pratibha Nair: 01.09.2022

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.