NM_000492.3:c.1418del - CAGS

NM_000492.3:c.1418del

HGVS Expressions

NG_016465.4:g.98706del
NM_000492.3:c.1418del
NP_000483.3:p.Gly473GlufsTer54
NC_000007.14:g.117559489del

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
219700.56	Saudi Arabia	1	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF30' in the publication...
219700.57	Saudi Arabia	1	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF32' in the publication...
219700.58	Saudi Arabia	1	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF40' in the publication...
219700.77	Saudi Arabia	2		Likely Pathogenic	Cystic Fibrosis	Alhathal et al. 2020
219700.G.2.4	Kuwait	NA	NA	Pathogenic	Cystic Fibrosis	Samilchuk, 2005	Unknown number of patients
219700.G.9.2	Saudi Arabia	4	NA	Pathogenic	Cystic Fibrosis	Banjar, 2004	Twins comorbid for cystic fibrosis and c...
219700.G.14.5	United Arab Emirates	NA	NA	Pathogenic	Cystic Fibrosis	Shafiq et al.2021	Mutations reported with a population fre...

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Contributors

Edit History

Pratibha Nair: 06.03.2023
Pratibha Nair: 29.11.2022
Asha Deepthi: 09.08.2022
Asha Deepthi: 02.06.2022
Asha Deepthi: 17.03.2021
Asha Deepthi: 30.04.2020
Asha Deepthi: 28.04.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.