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NM_000536.3:c.1375A>C
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NM_000536.3:c.1375A>C
HGVS Expressions
NG_033154.1:g.3302T>G
NM_000536.3:c.1375A>C
NP_000527.2:p.Met459Leu
NC_000011.10:g.36592794T>G
Associated Genes
Recombination-Activating Gene 2
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1204766339
Clinvar
496632
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
603554.1.1
Lebanon
2
Likely Pathogenic
Omenn Syndrome
Chou et al. 2012
603554.1.2
Lebanon
2
Likely Pathogenic
Omenn Syndrome
Chou et al. 2012
4th degree cousin of 603554.1.1
603554.1.G.1
Lebanon
6
Likely Pathogenic
Chou et al. 2012
Unaffected parents of 603554.1.1 and 603...
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Contributors
Pratibha Nair: 12.07.2021
Edit History
Pratibha Nair: 12.07.2021
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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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