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NM_000243.3:c.2040G>C
Home
NM_000243.3:c.2040G>C
HGVS Expressions
NG_007871.1:g.18181G>C
NM_000243.3:c.2040G>C
NP_000234.1:p.Met680Ile
Associated Genes
MEFV Innate Immunity Regulator, Pyrin
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Genomic Location
chr16:3243447
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
28940580
Clinvar
36507
Epidemiology in the Arab World
View Map
All Countries
Jordan
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
249100.9
Lebanon
1
Pathogenic
Familial Mediterranean Fever
Umar et al, 2020
249100.11
Lebanon
1
Pathogenic
Familial Mediterranean Fever
Umar et al, 2020
249100.G.1.5
Lebanon
18
Pathogenic
Familial Mediterranean Fever
Sabbagh et al, 2008
Group of patients including 3 homozygote...
249100.G.3.3
Jordan
8
9.5%
Pathogenic
Familial Mediterranean Fever
Medlej-Hashim et al, 2000
Group of patients including 1 homozygote...
249100.G.4.4
Lebanon
47
7.4%
Pathogenic
Familial Mediterranean Fever
Medlej-Hashim et al. 2005
Group of unrelated patients
249100.G.5.4
Jordan
10
12.8%
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: 14.02.2021
Sayeeda Hana: 13.01.2021
Sayeeda Hana: 22.09.2020
Sayeeda Hana: 02.09.2020
Sayeeda Hana: 28.07.2020
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Arab Countries with reported incidence
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