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NM_000243.3:c.2282G>A
Home
NM_000243.3:c.2282G>A
HGVS Expressions
NG_007871.1:g.18423G>A
NM_000243.3:c.2282G>A
NP_000234.1:p.Arg761His
Associated Genes
MEFV Innate Immunity Regulator, Pyrin
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Genomic Location
chr16:3243205
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104895097
Clinvar
2549
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
249100.G.1.8
Lebanon
5
2.4%
Pathogenic
Familial Mediterranean Fever
Sabbagh et al, 2008
Group of patients including 2 compound h...
249100.G.2.5
Lebanon
2
Pathogenic
Familial Mediterranean Fever
Medlej-Hashim et al, 2011
Group of 2 compound heterozygote FMF pat...
249100.G.2.9
Lebanon
4
Pathogenic
Medlej-Hashim et al, 2011
Group of healthy members including 3 com...
249100.G.4.6
Lebanon
20
3.1%
Pathogenic
Familial Mediterranean Fever
Medlej-Hashim et al. 2005
Group of unrelated patients
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Contributors
Sayeeda Hana: 28.07.2020
Edit History
Sayeeda Hana: 22.09.2020
Sayeeda Hana: 02.09.2020
Sayeeda Hana: 28.07.2020
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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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