NM_000517.6:c.95+2_95+6del - CAGS

NM_000517.6:c.95+2_95+6del

HGVS Expressions

NG_059271.1:g.5163_5167del
NM_000517.6:c.95+2_95+6del
NP_000508.1:p.?
NC_000016.10:g.173009_173013del

Associated Genes

Hemoglobin--Alpha Locus 2

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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
604131.9.1	Lebanon	1		Pathogenic	Alpha-Thalassemia	Inati et al. 2013	Proband exhibited two HBA2 and one HBB v...
604131.9.2	Lebanon	1		Pathogenic	Alpha-Thalassemia	Inati et al. 2013	Brother of 604131.9.1. Exhibited two HBA...
604131.9.3	Lebanon	1		Pathogenic		Inati et al. 2013	Father of 604131.9.1. Normal Hb with dec...
613978.1.2	Sudan	1		Likely Pathogenic	Hemoglobin H Disease	El-Kalla and Baysal, 1998
141850.G.2	Lebanon	4				Farra et al. 2015	4 Lebanese newborns
604131.11.G.1	United Arab Emirates	4		Likely Pathogenic	Alpha-Thalassemia	El-Kalla and Baysal, 1998	4 compound heterozygotes identified thro...
604131.11.G.3	United Arab Emirates	2		Likely Pathogenic		El-Kalla and Baysal, 1998	2 heterozygotes identified through testi...
604131.G.4	Lebanon			Pathogenic	Alpha-Thalassemia	Farra et al. 2015	10 Lebanese patients

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Contributors

Sayeeda Hana: 16.12.2020

Edit History

Pratibha Nair: 25.01.2023
Pratibha Nair: 28.11.2022
Pratibha Nair: 21.09.2022
Pratibha Nair: 23.08.2022
Sayeeda Hana: 25.08.2021
Sami Bizzari: 08.03.2021
Sayeeda Hana: 13.01.2021
Sayeeda Hana: 16.12.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.