MEFV (NM_000243.2) sequence variants

Editor(s): Isabelle TOUITOU   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for MEFV : 295

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
-979T>C5 flankingc.-979T>C-
 2014-03-10
-888G>A5 flankingc.-888G>A-
 2010-04-16
-792C>T5 flankingc.-792C>T-
 2007-01-08
-751A>G5 flankingc.-751A>G-
 2007-01-08
-740C>T5 flankingc.-740C>T-
 2007-01-08
-614C>G5 flankingc.-614C>G-
 2007-01-08
-382C>G5 flankingc.-382C>G-
 2007-01-08
-330G>A5 flankingc.-330G>A-
 2007-01-08
-170G>A5 flankingc.-170G>A-
 2013-02-05
-12C>G5UTc.-12C>G-
 2005-12-29
L9Lexon 1c.25C>Tp.(=)
 2005-12-29
T12Iexon 1c.35C>Tp.Thr12Ile
 2013-05-06
Y19Cexon 1c.56A>Gp.Tyr19Cys
 2013-05-06
K25Rexon 1c.74A>Gp.Lys25Arg
 2013-05-06
R39Gexon 1c.115A>Gp.Arg39Gly
 2013-05-06
R42Wexon 1c.124C>Tp.Arg42Trp
 2001-12-11
L57Lexon 1c.171G>Ap.(=)
 2014-03-11
Y65Yexon 1c.195C>Tp.(=)
 2001-12-11
E84Kexon 1c.250G>Ap.Glu84Lys
 2010-04-23
A89Texon 1c.265G>Ap.Ala89Thr
 2004-09-01
Q97Kexon 2c.289C>Ap.Gln97Lys
 2011-01-04
Q97Xexon 2c.289C>Tp.Gln97*
 2013-05-06
Q97Rexon 2c.290A>Gp.Gln97Arg
 2013-03-07
N99Nexon 2c.297 C>Tp.(=)
 2007-03-15
D102Dexon 2c.306T>Cp.(=)
 2001-12-24
D103Dexon 2c.309T>Cp.(=)
 2001-12-11
A105Eexon 2c.314C>A p.Ala105Glu
 2013-06-28
S108Rexon 2c.322A>Cp.Ser108Arg
 2002-02-12
L110Pexon 2c.329T>Cp.Leu110Pro
2001-12-11
L110Lexon 2c.330G>Ap.(=)
 2007-05-17
G111Rexon 2c.331G>Ap.Gly111Arg
 2012-10-01
G111Eexon 2c.332G>Ap.Gly111Glu
 2011-09-05
G111Gexon 2c.333G>Ap.(=)
 2007-02-07
334_335insGexon 2c.334_335insGp.Glu112fs*130
 2002-10-15
P115Texon 2c.343C>Ap. Pro115Thr
 2014-01-20
T120Iexon 2c.359C>Tp.Thr120Ile
 2013-08-22
P124Pexon 2c.372C>Tp.(=)
 2001-12-11
E125Eexon 2c.375G>Ap.(=)
 2005-10-06
390_391insGAGGGGAACexon 2c.382_390dupp.Glu128_Asn130dup
 2004-02-05
G136Rexon 2c.406G>Ap.Gly136Arg
 2007-08-22
G136Wexon 2c.406G>Tp.Gly111Trp
 2012-10-01
G136Gexon 2c.408G>Ap.(=)
 2012-10-01
G138Gexon 2c.414A>Gp.(=)
 2001-12-11
S141Iexon 2c.422G>Tp.Ser141Ile
 2005-04-19
R143Pexon 2c.428G>Cp.Arg143Pro
 2008-02-25
E148Qexon 2c.442G>Cp.Glu148Gln
2001-12-11
E148Vexon 2c.443A>Tp.Glu148Val
 2001-12-11
G150Gexon 2c.450G>Ap.(=)
 2011-06-07
R151Sexon 2c.453G>Cp.Arg151Ser
 2008-01-14
S154Pexon 2c.460T>Cp.Ser154Pro
 2013-02-28
S159Nexon 2c.476G>Ap.Ser159Asn
 2012-10-02
E163Aexon 2c.488A>Cp.Glu163Ala
 2002-06-18
E163Dexon 2c.489G>Tp.Glu163Asp
 2011-08-25
A165Texon 2c.493G>Ap.Ala165Thr
 2012-10-02
A165Aexon 2c.495C>Ap.(=)
 2001-12-11
S166Lexon 2c.497C>Tp.Ser166Leu
 2010-10-13
S166Sexon 2c.498G>Cp.(=)
 2012-10-02
E167Dexon 2c.501G>Cp.Glu167Asp
2001-12-11
L169Vexon 2c.505C>Gp.Leu169Val
 2012-10-02
Q172Pexon 2c.515A>Cp.Gln172Pro
 2009-06-04
P175Hexon 2c.524C>Ap.Pro175His
 2004-11-10
T177Iexon 2c.530C>Tp.Thr177Ile
 2005-12-02
S179Iexon 2c.536G>Tp.Ser179Ile
 2004-09-01
S179Nexon 2c.536G>Ap.Ser179Asn
2011-04-01
P180Rexon 2c.539C>Gp.Pro180Arg
 2005-08-16
P180Pexon 2c.540G>Cp.(=)
 2005-08-29
P183Pexon 2c.549G>Ap.(=)
 2012-09-20
A193Vexon 2c.578C>Tp.Ala193Val
 2012-10-02
L194Pexon 2c.581T>Cp.Leu194Pro
 2012-02-24
E195Eexon 2c.585G>Ap.(=)
 2013-05-06
G196Wexon 2c.586G>Tp.Glu196Trp
 2007-06-12
G196Rexon 2c.586G>Ap.Gly196Arg
 2013-09-10
G197Rexon 2c.589G>Cp.Gly197Arg
 2011-12-13
R202Qexon 2c.605G>Ap.Arg202Gln
 2001-12-11
L203Pexon 2c.608T>Cp.Leu203Pro
 2012-10-01
N206Sexon 2c.617A>Gp.Asn206Ser
 2012-10-02
N206K exon 2c.618C>Gp.Asn206Lys
 2013-04-18
606_621dupexon 2c.606_621dupp.Ser208Alafs*39
 2007-06-20
S208Cexon 2c.622A>Tp.Ser208Cys
 2012-07-03
S209Sexon 2c.627C>Tp.(=)
 2010-09-29
G211Gexon 2c.633G>Ap.(=)
 2012-07-13
G218Aexon 2c.653G>Cp.Gly218Ala
 2012-10-02
G219Gexon 2c.657C>Tp.(=)
 2007-08-10
P221Pexon 2c.663G>Cp.(=)
 2006-04-27
G222Rexon 2c.664G>Ap.Gly222Arg
 2012-10-02
E225Gexon 2c.674A>Gp.Glu225Gly
 2011-09-01
E225Dexon 2c.675G>Cp.Glu225Asp
 2007-07-03
E230Kexon 2c.688G>Ap.Glu230Lys
 2001-12-11
E230Qexon 2c.688G>Cp.Glu203Gln
 2013-06-29
Y232Hexon 2c.694T>Cp.Tyr232His
 2009-02-10
P234Pexon 2c.702C>Tp.(=)
 2012-10-01
G236Vexon 2c.707G>Tp.Gly236Val
 2006-02-23
R239Rexon 2c.717A>Tp.(=)
 2012-10-02
R241Kexon 2c.722G>Ap.Arg241Lys
 2011-03-25
S242Sexon 2c.726C>Tp.(=)
 2004-11-26
S242R C>Gexon 2c.726C>Gp.Ser242Arg
 2007-05-17
S242R C>Aexon 2c.726C>Ap.Ser242Arg
 2008-09-12
I247Vexon 2c.739A>Gp.Ile247Val
 2011-03-15
E251Kexon 2c.751G>Ap.Glu251Lys
 2002-12-20
761_764dupexon 2c.761_764dupCCGCp.Asn256Argfs*70
 2005-08-29
I259Vexon 2c.775A>Gp.Ile259Val
 2005-12-29
K266Eexon 2c.796A>Gp.Lys266Glu
 2013-11-06
T267Iexon 2c.800C>Tp.Thr267Ile
 2001-12-11
A268Vexon 2c.803C>Tp.Ala268Val
 2004-08-19
N270Dexon 2c.808A>Gp.Asn270Asp
 2013-09-10
S273Lexon 2c.818C>Tp.Ser273Leu
 2014-03-11
P277Texon 2c.829C>Ap.Pro277Thr
 2011-04-14
R278Pexon 2c.833G>Cp.Arg278Pro
 2008-01-21
P283Rexon 2c.848C>Gp.Pro283Arg
 2003-12-09
P283Lexon 2c.848C>Tp.Pro283Leu
 2005-05-23
S288Yexon 2c.863C>Ap.Ser288Tyr
 2013-06-29
A289Vexon 2c.866C>Tp.Ala289Val
 2005-06-07
A289Eexon 2c.866C>Ap.Ala289Glu
 2013-06-28
E299Gexon 2c.896A>Gp.Glu299Gly
 2006-10-17
G304Rexon 2c.910G>Ap.Gly304Arg
 2002-12-20
c.910+29C>Tintron 2c.910+29C>T-
 2008-01-21
911-78T>Cintron 2c.911-78T>C-
 2007-01-06
c.911-22T>Gintron 2c.911-22T>G-
 2008-01-23
P307Pexon 3c.921A>Gp.(=)
 2013-05-06
T309Mexon 3c.926C>Tp.Thr309Met
 2006-01-18
R314Cexon 3c.940C>Tp.Arg314Cys
 2011-04-14
R314Hexon 3c.941G>Ap.Arg314His
 2008-12-23
R314Rexon 3c.942C>Tp.(=)
 2001-12-11
A317Texon 3c.949G>Ap.Ala317Thr
 2010-08-26
E319Kexon 3c.955G>Ap.Glu319Lys
 2002-10-21
V328Aexon 3c.983T>Cp.Val328Ala
 2008-12-11
R329Hexon 3c.986G>Ap.Arg329His
 2002-12-20
V338Lexon 3c.1012G>Cp.Val338Leu
 2014-02-20
S339Fexon 3c.1016C>Tp.Ser339Phe
 2006-01-23
R348Hexon 3c.1043G>Ap.Arg348His
 2008-10-12
P350Rexon 3c.1049C>Gp.Pro350Arg
 2010-03-18
C352Cexon 3c.1056C>Tp.(=)
 2006-07-17
R354Wexon 3c.1060C>Tp.Arg354Trp
 2003-09-08
S363Nexon 3c.1088 G>Ap.Ser363Asn
 2014-02-25
S363Sexon 3c.1089C>Tp.(=)
 2007-01-06
P364Lexon 3c.1091C>Tp.Pro364Leu
 2009-10-19
P369Sexon 3c.1105C>Tp.Pro369Ser
2001-12-11
L372Pexon 3c.1115T>Cp.Leu372Pro
 2013-07-15
P373Lexon 3c.1118C>T p.Pro373Leu
 2013-09-10
K376Rexon 3c.1127A>Gp.Lys376Arg
 2013-02-05
Q383Kexon 3c.1147C>Ap.Gln383Lys
 2008-01-21
L384Pexon 3c.1151T>Cp.Leu384Pro
 2013-05-06
D391Nexon 3c.1171G>Ap.Asp391Asn
 2013-05-06
P393Pexon 3c.1179C>Tp.(=)
 2001-12-11
E403Kexon 3c.1207G>Ap.Glu403Lys
 2011-05-25
R408Qexon 3c.1223G>Ap.Arg408Gln
2001-12-11
V415Vexon 3c.1245C>Tp.(=)
 2008-08-05
1260+10C>Tintron 3c.1260+10C>T-
 2005-08-25
1260+18C>Gintron 3c.1260+18C>G-
 2005-08-25
c.1260+92G>Aintron 3c.1260+92G>A-
 2009-04-14
1261-28A>Gintron 3c.1261-28A>G-
 2005-09-01
1261-11T>Gintron 3c.1261-11T>G-
 2007-01-06
I423Vexon 4c.1267A>Gp.Ile423Val
 2005-12-29
Q426Rexon 4c.1277A>Gp.Gln426Arg
 2012-12-07
Q440Eexon 4c.1318C>Gp.Gln440Glu
 2007-03-28
1356+44A>Gintron 4c.1356+44A>G-
 2005-12-19
1356+98C>Tintron 4c.1356+98C>T-
 2011-09-09
E456Dexon 5c.1368A>Cp.Glu456Asp
 2010-03-18
A457Vexon 5c.1370C>Tp.Ala457Val
 2006-01-03
Q468Qexon 5c.1404G>Ap.(=)
 2013-05-06
V469Lexon 5c.1405G>Tp.Val469Leu
 2007-03-02
Y471Xexon 5c.1413C>Ap.Tyr471*
 2009-03-30
E474Kexon 5c.1420G>Ap.Glu474Lys
 2002-02-15
E474Eexon 5c.1422G>Ap.(=)
 2001-12-11
Q476Qexon 5c.1428A>Gp.(=)
 2001-12-11
H478Yexon 5c.1432C>Tp.His478Tyr
 2002-06-18
F479Lexon 5c.1437C>Gp.Phe479Leu
2001-12-11
V487Mexon 5c.1459G>Ap.Val487Met
 2002-01-17
Q489Qexon 5c.1467G>Ap.(=)
 2005-07-26
R501Gexon 5c.1501C>Gp.Arg501Gly
 2002-01-17
R501Cexon 5c.1501C>Tp.Arg501Cys
 2011-04-01
R501Hexon 5c.1502G>Ap.Arg501His
 2008-09-04
R501Rexon 5c.1503C>Tp.(=)
 2001-12-24
S503Cexon 5c.1508C>Gp.Ser503Cys
 2010-03-18
D505Gexon 5c.1514A>Gp.Asp505Gly
 2013-05-06
I506Vexon 5c.1516A>Gp.Ile506Val
 2008-01-14
I506Iexon 5c.1518C>Tp.(=)
 2001-12-24
D510Dexon 5c.1530T>Cp.(=)
 2001-12-22
A511Vexon 5c.1532C>Tp.Ala511Val
 2010-07-06
I513Texon 5c.1538T>Cp.Ile513Thr
 2008-10-12
G514Eexon 5c.1541G>Ap.Gly514Glu
 2006-10-17
1587+18C>Tintron 5c.1587+18C>T-
 2006-05-29
c.1587+29G>Tintron 5c.1587+29G>T-
 2009-03-11
1587+33C>Gintron 5c.1587+33C>G-
 2004-09-20
c.1588-69G>Aintron 5c.1588-69G>A-
 2008-01-23
c.1610+47A>Tintron 6c.1610+47A>T-
 2008-01-21
1610+96C>Tintron 6c.1610+96C>T-
 2006-05-09
P550Aexon 7c.1648C>Gp.Pro550Ala
 2012-07-23
L559Fexon 7c.1675C>Tp.Leu559Phe
 2003-01-13
1727-58T>Cintron 7c.1727-58T>C-
 2006-02-07
T577SATexon 8c.1729A>Tp.Thr577Ser
 2008-03-03
T577Aexon 8c.1729A>Gp.Thr577Ala
 2013-05-04
T577Nexon 8c.1730C>Ap.Thr577Asn
 2013-05-04
T577SCGexon 8c.1730C>Gp.Thr577Ser
 2013-05-04
M582Lexon 8c.1744A>Cp.Met582Leu
 2006-07-17
IVS8+8 C-Tintron 8c.1759+8C>T-
 2003-12-11
1760-30A>Tintron 8c.1760-30A>T-
 2006-03-17
1760-28T>Aintron 8c.1760-28T>A-
 2007-01-06
c.1760-5C>Tintron 8c.1760-5C>T-
 2013-05-06
1760-4G>Aintron 8c.1760-4G>A-
 2005-09-01
P588Pexon 9c.1764G>Ap.(=)
 2001-12-22
I591Texon 9c.1772T>Cp.Ile591Thr
 2001-12-22
G592Gexon 9c.1776C>Tp.(=)
 2006-04-06
A595Vexon 9c.1784C>Tp.Ala595Val
 2008-02-25
1792+39 G>Aintron 9c.1792+39 G>A-
 2007-03-15
IVS9+57C>Tintron 9c.1792+57C>T-
 2005-12-29
1793-14A>Gintron 9c.1793-14A>G-
 2005-09-01
N599Dexon 10c.1795A>Gp.Asn599Asp
 2009-06-04
L602Lexon 10c.1806G>Tp.(=)
 2009-08-21
T606Texon 10c.1818C>Tp.(=)
 2009-08-04
P609Pexon 10c.1827C>Gp.(=)
 2005-08-25
R628Kexon 10c.1883G>Ap.Arg628Lys
 2012-08-27
G632Sexon 10c.1894G>Ap.Gly632Ser
 2004-12-22
G632Aexon 10c.1895G>Cp.Gly632Ala
 2010-06-29
D637Gexon 10c.1910A>Gp.Asp637Gly
 2013-06-28
I640Mexon 10c.1920C>Gp.Ile640Met
2003-08-01
I641Fexon 10c.1921A>Tp.Ile641Phe
 2005-12-29
P646Lexon 10c.1937C>Tp.Pro646Leu
 2002-08-22
P646Pexon 10c.1938G>Ap.(=)
 2006-03-17
L649Pexon 10c.1946T>Cp.Leu649Pro
 2002-08-22
S650Yexon 10c.1949C>Ap.Ser650Tyr
 2013-06-29
R652Cexon 10c.1954C>Tp.Arg652Cys
 2013-03-25
R652Hexon 10c.1955G>Ap.Arg652His
 2012-07-23
R652Rexon 10c.1956C>Ap.(=)
 2001-12-22
R653Hexon 10c.1958G>Ap.Arg653His
2001-12-22
E656Aexon 10c.1967A>Cp.Glu656Ala
 2001-12-22
V659Fexon 10c.1975G>Tp.Val659Phe
 2009-06-12
D661Nexon 10c.1981G>Ap.Asp661Asn
 2003-12-11
I666Vexon 10c.1996A>Gp.Ile666Val
 2013-06-29
K671Mexon 10c.2012A>Tp.Lys671Met
 2012-12-07
S675Nexon 10c.2024G>Ap.Ser675Asn
 2001-12-22
G678Eexon 10c.2033G>Ap.Gly678Glu
 2001-12-22
M680Lexon 10c.2038A>Cp.Met680Leu
 2001-12-22
M680Vexon 10c.2038A>Gp.Met680Val
 2011-05-25
M680IGCexon 10c.2040G>Cp.Met680Ile
2001-12-11
M680IGAexon 10c.2040G>Ap.Met680Ile
 2001-12-11
T681Iexon 10c.2042C>Tp.Thr681Ile
 2001-12-22
S683Sexon 10c.2049G>Ap.(=)
 2001-12-24
G687Dexon 10c.2060G>Ap.Gly687Asp
 2013-06-26
Y688Cexon 10c.2063A>Gp.Tyr688Cys
 2004-02-05
Y688Fexon 10c.2063A>Tp.Tyr688Phe
 2011-12-19
Y688Xexon 10c.2064C>Gp.Tyr688*
 2001-12-24
I692DELexon 10c.2076_2078delp.Ile692del
2001-12-24
M693Iexon 10c.2079G>Cp.Met693Ile
 2009-11-14
M694Vexon 10c.2080A>Gp.Met694Val
2001-12-11
M694Lexon 10c.2080A>Tp.Met694Leu
 2002-12-20
M694DELexon 10c.2081_2083delp.Met694del
 2001-12-22
M694Kexon 10c.2081T>Ap.Met694Lys
 2012-10-12
M694Iexon 10c.2082G>Ap.Met694Ile
2001-12-11
K695Rexon 10c.2084A>Gp.Lys695Arg
 2001-12-24
K695Mexon 10c.2084A>Tp.Lys695Met
 2005-04-08
K695Nexon 10c.2085G>Cp.Lys695Asn
 2009-03-30
A701Aexon 10c.2103G>Ap.(=)
 2001-12-24
S702Cexon 10c.2105C>Gp.Ser702Cys
 2006-07-17
S703Sexon 10c.2109C>Tp.(=)
 2003-11-19
V704Iexon 10c.2110G>Ap.Val704Ile
 2001-12-24
P705Sexon 10c.2113C>Tp.Pro705Ser
 2005-12-29
P706Pexon 10c.2118G>Ap.(=)
 2001-12-24
R708Cexon 10c.2122C>Tp.Arg708Cys
 2008-11-14
L709Rexon 10c.2126T>Gp.Leu709Arg
 2008-01-14
R717Sexon 10c.2149C>Ap.Arg717Ser
 2008-02-25
R717Hexon 10c.2150G>Ap.Arg717His
 2011-08-06
R717Lexon 10c.2150G>Tp.Arg717Leu
 2011-09-01
I720Mexon 10c.2160C>Gp.Ile720Met
 2002-01-29
F721Fexon 10c.2163C>Tp.(=)
 2001-12-24
V722Mexon 10c.2164G>Ap.Val722Met
 2008-11-06
D723Dexon 10c.2169C>Tp.(=)
 2003-09-08
V726Aexon 10c.2177T>Cp.Val726Ala
2001-12-11
I729Vexon 10c.2185A>Gp.Ile729Val
 2013-02-15
S730Cexon 10c.2189C>Gp.Ser730Cys
 2011-05-17
N733Sexon 10c.2198A>Gp.Asn733Ser
 2013-06-11
R737Kexon 10c.2210G>Ap.Arg737Lys
 2011-08-01
F743Yexon 10c.2228T>Ap.Phe743Tyr
 2009-12-09
F743Lexon 10c.2229C>Gp.Phe743Leu
 2006-01-03
F743Fexon 10c.2229C>Tp.(=)
 2006-01-23
A744Sexon 10c.2230G>Tp.Ala744Ser
2001-12-24
A744Texon 10c.2230 G>Ap.Ala744Thr
 2014-02-25
S749Cexon 10c.2246C>Gp.Ser749Cys
 2007-01-08
Q753Qexon 10c.2259 A>Gp.(=)
 2007-03-15
Q753Hexon 10c.2259A>Tp.Gln753His
 2011-12-13
P754Rexon 10c.2261C>Gp.Pro754Arg
 2011-08-01
I755Vexon 10c.2263A>Gp.Ile755Val
 2008-08-05
P758Sexon 10c.2272C>Tp.Pro758Ser
 2003-04-10
R761Cexon 10c.2281C>Tp.Arg761Cys
 2013-11-05
R761Hexon 10c.2282G>Ap.Arg761His
2001-12-24
G764Gexon 10c.2292G>Tp.(=)
 2011-09-09
N766Hexon 10c.2296A>Cp.Asn766His
 2013-05-06
P769Aexon 10c.2305C>Gp.Pro769Ala
 2013-06-29
I772Vexon 10c.2314A>Gp.Ile772Val
 2006-06-15
Q778Lexon 10c.2333A>Tp.Gln778Leu
 2011-08-01
G779Gexon 10c.2337G>Cp.(=)
 2006-01-04
P780Texon 10c.2338C>Ap.Pro780Thr
 2006-01-11
*9C>T3UTc.*9C>T-
 2006-01-05
*12T>C3UTc.*12T>C-
 2007-12-28
*21C>G3UTc.*21C>G-
 2008-10-23