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NM_014339.7:c.268del
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NM_014339.7:c.268del
HGVS Expressions
NG_028257.1:g.17941del
NM_014339.7:c.268del
NP_055154.3:p.Leu90CysfsTer30
NC_000022.11:g.17097901del
Associated Genes
Interleukin 17 Receptor A
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1057518746
Clinvar
372207
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613953.4.1
Saudi Arabia
2
NA
Pathogenic
Immunodeficiency 51
Lévy et al. 2016
Patient from 'kindred J' in the publicat...
613953.4.2
Saudi Arabia
2
NA
Pathogenic
Immunodeficiency 51
Lévy et al. 2016
Brother of 613953.4.1
613953.4.3
Saudi Arabia
2
NA
Pathogenic
Immunodeficiency 51
Lévy et al. 2016
Cousin of 613953.4.1
613953.4.4
Saudi Arabia
2
NA
Pathogenic
Immunodeficiency 51
Lévy et al. 2016
Cousin of 613953.4.1
613953.4.G
Saudi Arabia
7
NA
Lévy et al. 2016
Unaffected relatives of 613953.4.1 (pare...
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Contributors
Asha Deepthi: 17.11.2022
Edit History
Asha Deepthi: 17.11.2022
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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