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NM_021798.3:c.602G>T
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NM_021798.3:c.602G>T
HGVS Expressions
NG_012222.1:g.47235G>T
NM_021798.3:c.602G>T
NP_068570.1:p.Arg201Leu
Associated Genes
Interleukin 21 Receptor
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Genomic Location
chr16:27444636
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397514685
Clinvar
42200
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
605383.1.1
Lebanon
2
Pathogenic
Immunodeficiency 56
Kotlarz et al, 2013
605383.1.2
Lebanon
2
Pathogenic
Immunodeficiency 56
Kotlarz et al, 2013
Sister of 605383.1.1
605383.1.3
Lebanon
1
Pathogenic
Kotlarz et al, 2013
Brother of 605383.1.1
Download Table
Contributors
Pratibha Nair: 27.08.2019
Edit History
Pratibha Nair: 27.08.2019
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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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