NM_000492.3:c.2988+1G>A - CAGS

NM_000492.3:c.2988+1G>A

HGVS Expressions

NG_016465.4:g.145971G>A
NM_000492.3:c.2988+1G>A
NP_000483.3:p.?
NC_000007.14:g.117606754G>A

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator

Back to search Result

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, 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
219700.1	Bahrain	1	NA	Pathogenic	Cystic Fibrosis	Eskandarani, 2002	Compound heterozygous patient
219700.52	United Arab Emirates	2	NA	Pathogenic	Cystic Fibrosis	Saleheen and Frossard, 2006
219700.60	Saudi Arabia	2	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF10' in the publication
219700.61	Saudi Arabia	2	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF16' in the publication
219700.62	Saudi Arabia	2	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF46' in the publication
219700.63	Saudi Arabia	2	NA	Pathogenic	Cystic Fibrosis	El-Harith et al. 1997	Patient number 'CF49' in the publication
219700.74	United Arab Emirates	2		Likely Pathogenic	Cystic Fibrosis	Alsamri et al. 2020
219700.G.2.6	Kuwait	NA	NA	Pathogenic	Cystic Fibrosis	Samilchuk, 2005	Unknown number of patients
219700.G.10	Saudi Arabia	6	NA	Pathogenic	Cystic Fibrosis	Dörk et al. 1998	Three patients of Saudi origin
219700.G.14.5	United Arab Emirates	NA	NA	Pathogenic	Cystic Fibrosis	Shafiq et al.2021	Mutations reported with a population fre...

Download Table

Contributors

Pratibha Nair: 14.02.2022

Edit History

Pratibha Nair: 29.11.2022
Asha Deepthi: 09.08.2022
Asha Deepthi: 02.06.2022
Pratibha Nair: 14.02.2022
Asha Deepthi: 21.03.2021
Asha Deepthi: 30.04.2020
Asha Deepthi: 29.04.2020

Back to search Result

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.