NM_000492.3:c.416A>T - CAGS

NM_000492.3:c.416A>T

HGVS Expressions

NG_016465.4:g.70258A>T
NM_000492.3:c.416A>T
NP_000483.3:p.His139Leu
NC_000007.14:g.117531041A>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator

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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely 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	Likely Pathogenic	Cystic Fibrosis	Eskandarani, 2002	Compound heterozygous patient
219700.53	Saudi Arabia	1	NA	Likely Pathogenic	Cystic Fibrosis	Banjar, 2002; Banjar, 2004	Patient comorbid for cystic fibrosis (co...
219700.G.1.1	Bahrain	2	NA	Likely Pathogenic	Cystic Fibrosis	Eskandarani, 2002	2 compound heterozygous patients from a ...
219700.G.1.2	Bahrain	3	NA	Likely Pathogenic	Cystic Fibrosis	Eskandarani, 2002	3 compound heterozygous patients from 3 ...

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Contributors

Edit History

Asha Deepthi: 10.08.2022
Asha Deepthi: 09.08.2022
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.