Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MEFV

Gene name: Mediterranean fever
OMIM ID: 608107
Chromosome location: 16p13.3

Mutations

Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2040G>C
A.A. Changep.Met680Leu
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBelmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
C R Biol. 2006 Feb;329(2):71-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2074_2076delATA
A.A. Changep.Ile692del
Exon/Intronexon 10
Mutation Typedeletion
ReferenceBelmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Rheumatol Int. 2012 Apr;32(4):981-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2080A>G
A.A. Changep.Met694Val
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBelmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
C R Biol. 2006 Feb;329(2):71-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2080_2082delATG
A.A. Changep.Met694del
Exon/Intronexon 10
Mutation Typedeletion
ReferenceBelmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Rheumatol Int. 2012 Apr;32(4):981-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2082G>A
A.A. Changep.Met694Ile
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBelmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
C R Biol. 2006 Feb;329(2):71-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2084A>G
A.A. Changep.Lys695Arg
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBelmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Rheumatol Int. 2012 Apr;32(4):981-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2230G>T
A.A. Changep.Ala744Ser
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBelmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
C R Biol. 2006 Feb;329(2):71-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.2282G>A
A.A. Changep.Arg761His
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBelmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Rheumatol Int. 2012 Apr;32(4):981-4.
Disease/PhenotypeFamilial Mediterranean fever
Reference transcriptNM_000243.2
DNA Changec.442G>C
A.A. Changep.Glu148Gln
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceBelmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
C R Biol. 2006 Feb;329(2):71-4.