NM_012472.6:c.436G>C - CAGS

NM_012472.6:c.436G>C

HGVS Expressions

NG_033068.2:g.74956G>C
NM_012472.6:c.436G>C
NP_036604.2:p.Asp146His
NC_000008.11:g.132632957C>G

Associated Genes

Dynein, Axonemal, Assembly Factor 11

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

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
614935.G.1	Palestine	10	Pathogenic	Ciliary Dyskinesia, Primary, 19	Rumman et al. 2023	Five patients from five 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.