NM_000518.5:c.316-3C>A - CAGS

NM_000518.5:c.316-3C>A

HGVS Expressions

NG_059281.1:g.6343C>A
NM_000518.5:c.316-3C>A
NP_000509.1:p.?
NC_000011.10:g.5225729G>T

Associated Genes

Hemoglobin - Beta Locus

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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
613985.6	Egypt	1	NA	Pathogenic	Beta-Thalassemia	Wong et al. 1989	Patient presented with β-thalassaemia tr...
613985.33	United Arab Emirates	1	<0.104	Pathogenic	Beta-Thalassemia	Baysal, 2005	Patient with β-thalassemia. Patient was ...
613985.G.16	United Arab Emirates	1	NA	Likely Pathogenic	Beta-Thalassemia	El-Kalla and Mathews, 1997	Mutations identified in 137 Emirati β-th...
613985.G.19	United Arab Emirates	NA	NA	Likely Pathogenic	Beta-Thalassemia	De Leo et al. 1995	Mutations identified in 35 unrelated β-t...
613985.G.23.1	United Arab Emirates	3	0.004	Pathogenic	Beta-Thalassemia	Baysal. 2011; Baysal 2017	412 Emirati patients with beta thalassem...
613985.G.24.1	Lebanon	1	0.01	Likely Pathogenic	Beta-Thalassemia	Farra et al. 2021	Mutations identified in 126 Lebanese pat...
613985.G.24.2	Iraq	3	0.08	Likely Pathogenic	Beta-Thalassemia	Farra et al. 2021	Mutation identified in 26 Iraqi patients...

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Contributors

Asha Deepthi: 15.12.2020

Edit History

Asha Deepthi: 30.07.2024
Asha Deepthi: 29.07.2024
Pratibha Nair: 24.01.2023
Pratibha Nair: 12.01.2023
Asha Deepthi: 05.12.2022
Pratibha Nair: 24.03.2022
Asha Deepthi: 17.10.2021
Asha Deepthi: 14.09.2021
Asha Deepthi: 01.09.2021
Asha Deepthi: 15.12.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.