NM_000518.5:c.*110_*114del - CAGS

NM_000518.5:c.110_114del

HGVS Expressions

NG_059281.1:g.6584_6588del
NM_000518.5:c.*110_*114del
NP_000509.1:p.?
NC_000011.10:g.5225486_5225490del

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
613985.9	Egypt	2	NA	Pathogenic	Beta-Thalassemia	El-Kalla and Mathews, 1997
613985.32	United Arab Emirates	1	<0.104	Pathogenic	Beta-Thalassemia	Baysal, 2005	Patient with β-thalassemia. Patient was ...
613985.G.15.1	Oman	2		Pathogenic	Beta-Thalassemia	El-Kalla and Mathews, 1997	Mutations identified in Omani β-thalassa...
613985.G.22.13	United Arab Emirates	2	<0.104	Likely Pathogenic	Beta-Thalassemia	Baysal, 2005	2 patients with β-thalassemia. Both pati...

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Contributors

Asha Deepthi: 21.12.2020

Edit History

Pratibha Nair: 25.01.2023
Pratibha Nair: 24.01.2023
Pratibha Nair: 28.11.2022
Pratibha Nair: 23.08.2022
Asha Deepthi: 18.10.2021
Asha Deepthi: 17.10.2021
Asha Deepthi: 11.01.2021
Asha Deepthi: 21.12.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.