NM_000518.5:c.-138C>A - CAGS

NM_000518.5:c.-138C>A

HGVS Expressions

NG_059281.1:g.4913C>A
NM_000518.5:c.-138C>A
NC_000011.10:g.5227159G>T

Associated Genes

Hemoglobin - Beta Locus

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Clinvar Clinical Significance

Likely Pathogenic, 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
603903.G.1	Bahrain	2	NA	Likely Pathogenic	Sickle Cell Anemia	Jassim and Al Arrayed, 2006	Two patients from two unrelated families...
613985.G.5	Bahrain		1.5	Pathogenic	Beta-Thalassemia	Jassim et al. 1998	Mutations identified in a study group of...
613985.G.22.1	United Arab Emirates	4	<0.104	Pathogenic	Beta-Thalassemia	Baysal, 2005	Homozygous β-thalassemia mutations repor...
613985.G.22.12	United Arab Emirates	2	<0.104	Likely Pathogenic	Beta-Thalassemia	Baysal, 2005	2 patients with β-thalassemia. Both pati...
613985.G.23.1	United Arab Emirates	9	0.011	Pathogenic	Beta-Thalassemia	Baysal. 2011; Baysal 2017	412 Emirati patients with beta thalassem...

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Contributors

Asha Deepthi: 15.12.2020

Edit History

Pratibha Nair: 25.01.2023
Pratibha Nair: 23.08.2022
Pratibha Nair: 24.03.2022
Asha Deepthi: 18.10.2021
Asha Deepthi: 17.10.2021
Asha Deepthi: 14.10.2021
Asha Deepthi: 05.10.2021
Asha Deepthi: 15.12.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.