NM_000518.5:c.112del - CAGS

NM_000518.5:c.112del

HGVS Expressions

NG_059281.1:g.5292del
NM_000518.5:c.112del
NP_000509.1:p.Trp38GlyfsTer24
NC_000011.10:g.5226781del

Associated Genes

Hemoglobin - Beta Locus

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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
613985.35	United Arab Emirates	1	<0.104	Pathogenic	Beta-Thalassemia	Baysal, 2005	Patient with β-thalassemia. Patient was ...
613985.G.3.2	Lebanon	1	0.002	Pathogenic	Beta-Thalassemia	Makhoul et al. 2005	Patients with beta-zero-thalassemia from...
613985.G.9.1	Kuwait			Likely Pathogenic, Pathogenic	Beta-Thalassemia	Adekile et al. 1994	Mutations identified in 41 unrelated Kuw...
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.23.1	United Arab Emirates	1	0.001	Pathogenic	Beta-Thalassemia	Baysal. 2011; Baysal 2017	412 Emirati patients with beta thalassem...
613985.G.24.1	Lebanon	2	0.01	Pathogenic	Beta-Thalassemia	Farra et al. 2021	Mutations identified in 126 Lebanese pat...

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Contributors

Asha Deepthi: 16.11.2020

Edit History

Asha Deepthi: 29.07.2024
Pratibha Nair: 24.01.2023
Asha Deepthi: 05.12.2022
Pratibha Nair: 24.03.2022
Asha Deepthi: 17.10.2021
Asha Deepthi: 01.09.2021
Asha Deepthi: 07.07.2021
Asha Deepthi: 27.12.2020
Asha Deepthi: 16.11.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.