NM_000492.3:c.3846G>A - CAGS

NM_000492.3:c.3846G>A

HGVS Expressions

NG_016465.4:g.181783G>A
NM_000492.3:c.3846G>A
NP_000483.3:p.Trp1282Ter
NC_000007.14:g.117642566G>A

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator

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Clinvar Clinical Significance

Drug Response, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
219700.10	Lebanon	2	NA	Pathogenic	Cystic Fibrosis	Desgeorges et al. 1997	Patient from family '256' in the publica...
219700.14	Lebanon	2	NA	Pathogenic	Cystic Fibrosis	Desgeorges et al. 1997	Patient from family '272' in the publica...
219700.15	Lebanon	2	NA	Pathogenic	Cystic Fibrosis	Desgeorges et al. 1997	Patient from family '273' in the publica...
219700.17	Lebanon	1	NA	Pathogenic	Cystic Fibrosis	Desgeorges et al. 1997	Compound heterozygous patient from famil...
219700.22	Lebanon	1	NA	Pathogenic	Cystic Fibrosis	Desgeorges et al. 1997	Patient from family '290' in the publica...
219700.G.2.3	Kuwait	NA	NA	Pathogenic	Cystic Fibrosis	Samilchuk, 2005	Unknown number of patients
219700.G.6.5	Tunisia	32	NA	Pathogenic	Cystic Fibrosis	Messaoud et al. 2005	16 patients from unrelated families
219700.G.6.6	Tunisia	4	NA	Pathogenic	Cystic Fibrosis	Messaoud et al. 2005	4 patients from unrelated families
219700.G.13.3	Lebanon	3	0.138	Pathogenic	Cystic Fibrosis	Farra et al, 2010	Mutation identified in 7% of 44 alleles ...

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Contributors

Edit History

Asha Deepthi: 10.08.2022
Asha Deepthi: 09.08.2022
Asha Deepthi: 21.03.2021
Asha Deepthi: 02.11.2020
Asha Deepthi: 30.04.2020
Asha Deepthi: 29.04.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.