|
rs61732874
|
|
Familial Mediterranean Fever
|
|
0.820 |
GeneticVariation
|
UNIPROT |
|
|
|
|
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 |
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
|
20534143 |
2010 |
|
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 |
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 |
GeneticVariation
|
CLINVAR |
Differentiating PFAPA syndrome from monogenic periodic fevers.
|
19786432 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
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 |
GeneticVariation
|
CLINVAR |
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
|
22661645 |
2012 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).
|
9668175 |
1998 |
|
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 |
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 |
GeneticVariation
|
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 |
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 |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
|
19863562 |
2009 |
|
rs61732874
|
|
Familial Mediterranean Fever
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
|
21246368 |
2012 |
|
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 |
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 |
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
|
10090880 |
1999 |
|
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 |