NM_000518.5:c.-151C>T - CAGS

NM_000518.5:c.-151C>T

HGVS Expressions

NG_059281.1:g.4900C>T
NM_000518.5:c.-151C>T
NC_000011.10:g.5227172G>A

Associated Genes

Hemoglobin - Beta Locus

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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic, Uncertain Significance

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
613985.36	United Arab Emirates	1	<0.104	Pathogenic	Beta-Thalassemia	Baysal, 2005	Patient with β-thalassemia. Patient was ...
613985.G.11	Kuwait	3		Uncertain Significance	Beta-Thalassemia	Adekile et al. 2005	3 patient from 'family 9' in the publica...
613985.G.16	United Arab Emirates	1	NA	Uncertain Significance	Beta-Thalassemia	El-Kalla and Mathews, 1997	Mutations identified in 137 Emirati β-th...
613985.G.23.1	United Arab Emirates	2	0.002	Pathogenic	Beta-Thalassemia	Baysal. 2011; Baysal 2017	412 Emirati patients with beta thalassem...

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Contributors

Asha Deepthi: 27.12.2020

Edit History

Pratibha Nair: 24.01.2023
Pratibha Nair: 24.03.2022
Asha Deepthi: 17.10.2021
Asha Deepthi: 01.09.2021
Asha Deepthi: 27.12.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.