Variant: rs28940578 

    present in Gene: MEFV
    present in Chromosome: 16
    Position on Chromosome: 3243405
    Alleles of this Variant: C/T

rs28940578 in MEFV gene and Familial Mediterranean Fever PMID 10787449 2000 The genetic basis of autosomal dominant familial Mediterranean fever.

PMID 19466506 2009 Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.

PMID 16730661 2006 Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

PMID 16378925 2006 Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

PMID 25628446 2015 Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.

PMID 20051664 2010 Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene.

PMID 10612841 2000 MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.

PMID 9288094 1997 A candidate gene for familial Mediterranean fever.

PMID 23742958 2013 Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

PMID 15168590 2004 E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever.

PMID 19863562 2009 MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

PMID 17711558 2008 Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q).

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 22037353 2012 Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.

PMID 16627024 2007 Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

PMID 21290976 2010 Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.

PMID 11938447 2002 Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.

PMID 12064853 2002 Familial Mediterranean fever in 2 Japanese families.

PMID 24318677 2014 FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.

PMID 15805719 2005 Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing.

PMID 10234504 1999 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

PMID 10024914 1998 Pyrin/marenostrin mutations in familial Mediterranean fever.

PMID 10364520 1999 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

PMID 23907647 2014 Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.

PMID 9781020 1998 Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

rs28940578 in MEFV gene and Familial Mediterranean Fever, Autosomal Dominant PMID 15942916 2005 The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

rs28940578 in MEFV gene and Nephrotic Syndrome PMID 15942916 2005 The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.