|
rs61732874
|
|
Familial Mediterranean Fever
|
|
0.820 |
GeneticVariation
|
BEFREE |
Mutations p.M680I, p.M694V, p.M694I, p.K695R, p.V726A, and p.A744S, which are located in the B30.2 domain of pyrin protein, are responsible for manifestation of the most common and severe forms of FMF.
|
29575132 |
2018 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
|
0.820 |
GeneticVariation
|
BEFREE |
Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S).
|
16273767 |
2006 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
"The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ""hot-spot"" at the MEFV locus."
|
15024744 |
2004 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
|
20165923 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience.
|
25793047 |
2014 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
|
22019805 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum.
|
20008924 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
|
19934083 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
|
20177433 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Renal amyloidosis due to familial mediterranean fever misdiagnosed.
|
23716950 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
|
20177433 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Revisiting the morbid genome of Mendelian disorders.
|
27884173 |
2016 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).
|
26843738 |
2015 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q.
|
25648235 |
2015 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
|
23031807 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.
|
21598806 |
2011 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
|
20534143 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
16627024 |
2007 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Differentiating PFAPA syndrome from monogenic periodic fevers.
|
19786432 |
2009 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
|
19449169 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
|
23031807 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.
|
14578331 |
2003 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
|
19449169 |
2010 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.
|
17566872 |
2008 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).
|
26843738 |
2015 |