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NM_000518.5:c.316-106C>G
Home
NM_000518.5:c.316-106C>G
HGVS Expressions
NG_059281.1:g.6240C>G
NM_000518.5:c.316-106C>G
Associated Genes
Hemoglobin - Beta Locus
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Genomic Location
chr11:5225832
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
34690599
Clinvar
15457
Epidemiology in the Arab World
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All Countries
Egypt
Jordan
Lebanon
Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613985.G.1.2
Lebanon
4
0.036
Pathogenic
Beta-Thalassemia
Zahed et al, 1997
Unknown number of patients with beta-plu...
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.2.5
Lebanon
NA
Pathogenic
Beta-Thalassemia
el-Hazmi et al, 1995
Beta-thalassemia mutations observed in 2...
613985.G.3.1
Lebanon
6
0.011
Pathogenic
Beta-Thalassemia
Makhoul et al. 2005
Patients with beta-plus-thalassemia from...
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Contributors
Asha Deepthi: 14.05.2020
Edit History
Asha Deepthi: 07.07.2021
Asha Deepthi: 17.11.2020
Asha Deepthi: 16.11.2020
Asha Deepthi: 15.11.2020
Asha Deepthi: 14.05.2020
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