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NM_000518.5:c.92+1G>A
Home
NM_000518.5:c.92+1G>A
HGVS Expressions
NG_059281.1:g.5143G>A
NM_000518.5:c.92+1G>A
NP_000509.1:p.?
NC_000011.10:g.5226929C>T
Associated Genes
Hemoglobin - Beta Locus
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
33971440
Clinvar
15436
Epidemiology in the Arab World
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All Countries
Bahrain
Egypt
Iraq
Jordan
Kuwait
Lebanon
Syria
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
603903.8
United Arab Emirates
2
Pathogenic
Beta-Thalassemia
Choi et al. 2018
613985.G.1.1
Lebanon
19
0.173
Pathogenic
Beta-Thalassemia
Zahed et al, 1997
Unknown number of patients with beta-zer...
613985.G.2.2
Jordan
NA
Pathogenic
Beta-Thalassemia
el-Hazmi et al, 1995
Beta-thalassemia mutations observed in 2...
613985.G.2.3
Egypt
NA
Pathogenic
Beta-Thalassemia
el-Hazmi et al, 1995
Beta-thalassemia mutations observed in 3...
613985.G.2.4
Syria
NA
Pathogenic
Beta-Thalassemia
el-Hazmi et al, 1995
Beta-thalassemia mutations observed in 3...
613985.G.3.2
Lebanon
78
0.15
Pathogenic
Beta-Thalassemia
Makhoul et al. 2005
Patients with beta-zero-thalassemia from...
613985.G.5
Bahrain
3.0
Pathogenic
Beta-Thalassemia
Jassim et al. 1998
Mutations identified in a study group of...
613985.G.7
Iraq
8.7
Likely Pathogenic
Beta-Thalassemia
Al-Allawi et al. 2006
Mutations identified in parents of β-tha...
613985.G.8
Iraq
4.1
Likely Pathogenic
Beta-Thalassemia
Jalal et al. 2010
Mutations identified in 123 β-thalassaem...
613985.G.9.1
Kuwait
Likely Pathogenic, Pathogenic
Beta-Thalassemia
Adekile et al. 1994
Mutations identified in 41 unrelated Kuw...
613985.G.22.1
United Arab Emirates
4
<0.104
Pathogenic
Beta-Thalassemia
Baysal, 2005
Homozygous β-thalassemia mutations repor...
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Contributors
Asha Deepthi: 13.05.2020
Edit History
Pratibha Nair: 29.11.2022
Pratibha Nair: 23.08.2022
Sayeeda Hana: 28.04.2022
Asha Deepthi: 14.10.2021
Asha Deepthi: 07.07.2021
Asha Deepthi: 27.12.2020
Asha Deepthi: 24.12.2020
Asha Deepthi: 15.12.2020
Asha Deepthi: 17.11.2020
Asha Deepthi: 16.11.2020
Asha Deepthi: 15.11.2020
Asha Deepthi: 14.05.2020
Asha Deepthi: 13.05.2020
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