NM_000492.3:c.1624G>T - CAGS

NM_000492.3:c.1624G>T

HGVS Expressions

NG_016465.4:g.126995G>T
NM_000492.3:c.1624G>T
NP_000483.3:p.Gly542Ter
NC_000007.14:g.117587778G>T

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
219700.2	Bahrain	1	NA	Pathogenic	Cystic Fibrosis	Eskandarani, 2002	Compound heterozygous patient
219700.70	Lebanon	1	1.3	Pathogenic	Cystic Fibrosis	Farra et al, 2010	Compound heterozygous CF patient from fa...
219700.G.6.3	Tunisia	34	NA	Pathogenic	Cystic Fibrosis	Messaoud et al. 2005	17 patients from unrelated families
219700.G.6.4	Tunisia	9	NA	Pathogenic	Cystic Fibrosis	Messaoud et al. 2005	9 patients from unrelated families

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Contributors

Edit History

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.