NLRP7 (NM_001127255.1) sequence variants
(NALP7/PYPAF3/NOD12/PAN7/CLR19.4)

Editor(s): Rima SLIM   

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

Total current number of sequence variants for NLRP7 : 250

*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
c.-13413_2982-344del5 flankingc.-13413_2982-344delp.0
 2015-11-15
c.-3998_2130-668del5 flankingc.-3998_2130-668delp.0
 2015-11-15
c.-122G>A5 flankingc.-122G>A-
 2012-02-29
c.-40+21C>Tintron 1c.-40+21C>T-
 2008-03-07
c.-40+34T>Gintron 1c.-40+34T>G-
 2012-10-17
c.-40+36C>Tintron 1c.-40+36C>T-
 2008-03-07
c.-40+121G>Aintron 1c.-40+121G>A-
 2012-02-29
c.-40+251_2130-681del5 flankingc.-40+251_2130-681delp.0
 2015-11-15
c.-39-1769_2129+228delintron 1c.-39-1769_2129+228del-
 2015-11-27
c.-39-792C>Tintron 1c.-39-792C>T-
 2008-07-11
c.-39-427T>Cintron 1c.-39-427T>C-
 2008-03-01
c.-39-393G>Aintron 1c.-39-393G>A-
 2008-03-01
E710Dfs7Xintron 1c.-39-387_2129+265dupp.Glu710Aspfs*7
 2007-12-26
c.-39-300C>Tintron 1c.-39-300C>T-
 2008-03-07
c.-39-231_2130-510del5UTc.-39-231_2130-510delp.0
 2014-09-22
c.-39-90G>Cintron 1c.-39-90G>C-
 2008-07-11
c.-39-16C>Tintron 1c.-39-16C>T-
 2008-01-03
S62PfsX6exon 2c.183delCp.Ser62Profs*6
 2009-03-23
W66*exon 2c.197G>Ap.Trp66*
 2016-05-05
N73Nexon 2c.219C>Tp.(=)
 2009-06-17
C84Yexon 2c.251G>Ap.Cys84Tyr
 2007-08-15
c.277+1G>Cintron 2c.277+1G>C-
 2011-09-02
c.278-134C>Tintron 2c.278-134C>T-
 2014-09-16
c.278-68A>Gintron 2c.278-68A>G-
 2012-06-28
E99Xexon 3c.295G>Tp.Glu99*
 2007-05-28
E113GfsX7exon 3c.337dupGp.Glu113Glyfs*7
 2009-03-23
K116Xexon 3c.346A>Tp.Lys116*
 2009-04-03
c.352+1G>Aintron 3c.352+1G>Ap.Gly118fs
 2006-08-10
c.352+231G>Aintron 3c.352+231G>A-
 2008-07-11
c.353-235C>Tintron 3c.353-235C>T-
 2008-07-11
c.353-234G>Aintron 3c.353-234G>A-
 2011-03-04
c.353-231C>Aintron 3c.353-231C>A-
 2011-03-04
c.353-227A>Gintron 3c.353-227A>G-
 2011-03-04
c.353-216C>Gintron 3c.353-216C>G-
 2008-03-01
c.353-178A>Gintron 3c.353-178A>G-
 2008-03-01
c.353-111C>Tintron 3c.353-111C>T-
 2008-03-05
c.353-71C>Tintron 3c.353-71C>T-
 2008-05-16
c.353-56A>Gintron 3c.353-56A>G-
 2008-01-03
c.353-52T>Gintron 3c.353-52T>G-
 2011-03-04
Q130Qexon 4c.390G>Ap.(=)
 2006-08-11
D149Gexon 4c.446A>Gp.Asp149Gly
 2012-10-30
R156Qexon 4c.467G>Ap.Arg156Gln
 2008-07-11
V182Mexon 4c.544G>Ap.Val182Met
 2011-10-30
M192Lexon 4c.574A>Cp.Met192Leu
 2008-07-11
W195Xexon 4c.584G>Ap.Trp195X
 2015-11-27
S201Sexon 4c.603C>Tp.(=)
 2007-10-31
L210Fexon 4c.628C>Tp.Leu210Phe
 2011-03-04
W231Xexon 4c.693G>Ap.Trp231*
 2012-07-14
L234Sexon 4c.701T>Cp.Leu234Ser
 2010-02-03
F250Cexon 4c.749T>Gp.Phe250Cys
 2010-07-22
F250Lexon 4c.750C>Ap.Phe250Leu
 2010-04-06
K277Qexon 4c.829A>Cp.Lys277Gln
 2008-07-11
V279Lexon 4c.835G>Tp.Val279Leu
 2012-10-30
A305Aexon 4c.915A>Cp.(=)
 2009-06-17
Q310Rexon 4c.929A>Gp.Gln310Arg
 2010-07-22
Q310Hfs*38exon 4c.930_931delGCp.Gln310Hisfs*38
 2009-07-02
L311Hexon 4c.930G>Tp.Leu311His
 2010-07-22
L311Iexon 4c.931C>Ap.Leu311Ile
 2010-07-22
Y318CfsX7exon 4c.939_952dup14p.Tyr318Cysfs*7
 2009-03-23
V319Iexon 4c.955G>Ap.Val319Ile
 2006-08-25
R329Kexon 4c.985A>Cp.Arg329Lys
 2007-11-21
D339Dexon 4c.1017C>Tp.(=)
 2012-03-07
E340Kexon 4c.1018G>Ap.Glu340Lys
 2011-01-12
E340Qfs*8exon 4c.1018_1019delGAp.Glu340Glnfs*8
 2011-03-04
I368Iexon 4c.1104T>Cp.(=)
 2009-06-17
I368Mexon 4c.1104T>Gp.Iso368Met
 2011-01-13
K379Kexon 4c.1137G>Ap.(=)
 2006-08-11
K379Nexon 4c.1137G>Cp.Lys379Asn
 2007-08-15
G380Rexon 4c.1138G>Cp.Gly380Arg
 2009-04-03
P383Lexon 4c.1148C>Tp.Pro383Leu
 2012-10-30
R390Hexon 4c.1169G>Ap.Arg390His
 2009-02-04
T391Aexon 4c.1171A>Gp.Thr391Ala
 2012-10-30
F394Fexon 4c.1182C>Tp.(=)
 2009-07-28
L398Rexon 4c.1193T>Gp.Leu398Arg
 2009-03-23
C399Yexon 4c.1196G>Ap.Cys399Tyr
 2007-08-15
L412Pexon 4c.1235T>Cp.Leu412Pro
 2012-10-30
R413Wexon 4c.1237C>Tp.Arg413Trp
 2011-01-12
R413Qexon 4c.1238G>Ap.Arg413Gln
 2012-02-23
M427Texon 4c.1280T>Cp.Met427Thr
 2009-02-04
F430Lexon 4c.1288T>Cp.Phe430Leu
 2009-03-03
F430Fexon 4c.1290C>Tp.(=)
 2009-02-04
R432Xexon 4c.1294C>Tp.Arg432*
 2008-07-11
D434Dexon 4c.1302C>Tp.(=)
 2009-02-04
L435Lexon 4c.1305G>Tp.(=)
 2012-02-29
L454Lexon 4c.1362C>Tp.(=)
 2011-01-26
R458Sfs*69exon 4c.1374_1375delAGp.Arg458Serfs*69
 2014-04-01
A481Texon 4c.1441G>Ap.Ala481Thr
 2007-10-17
E486GfsX42exon 4c.1456dupGp.Glu486Glyfs*42
 2009-04-03
G487Eexon 4c.1460G>Ap.Gly487Glu
 2007-10-23
A494Texon 4c.1480G>Ap.Ala494Thr
 2011-10-30
I497Iexon 4c.1491C>Tp.(=)
 2007-10-17
G498Rexon 4c.1492G>Ap.Gly498Arg
 2009-02-04
E508DfsX27exon 4c.1517_1518ins22p.Glu508Aspfs*27
 2013-06-25
K511Rexon 4c.1532A>Gp.Lys511Arg
 2008-05-16
P513Sexon 4c.1537C>Tp.Pro513Ser
 2012-03-07
M542Tfsexon 4c.1625_1700del76p.Met542Thrfs*2
 2010-04-06
E570Xexon 4c.1708G>Tp.Glu570*
 2009-01-28
L575Lexon 4c.1725G>Tp.(=)
 2007-10-23
P590Pexon 4c.1770G>Ap.(=)
 2012-06-27
S608Fexon 4c.1823C>Tp.Ser608Phe
 2012-10-30
E637*exon 4c.1908dupTp.E637*
 2015-10-22
c.1931+18A>Tintron 4c.1931+18A>T-
 2008-07-11
c.1931+43C>Tintron 4c.1931+43C>T-
 2008-07-11
c.1931+49C>Tintron 4c.1931+49C>T-
 2011-03-04
c.1931+110T>Cintron 4c.1931+110T>C-
 2008-07-11
c.1931+176G>Tintron 4c.1931+176G>T-
 2008-07-11
c.1931+226C>Gintron 4c.1931+226C>G-
 2008-07-11
c.1932-296A>Tintron 4c.1932-296A>T-
 2011-03-04
c.1932-178delTintron 4c.1932-178delT-
 2008-03-01
c.1932-146C>Tintron 4c.1932-146C>T-
 2008-03-01
c.1932-103G>Cintron 4c.1932-103G>C-
 2008-03-01
c.1932-71A>Gintron 4c.1932-71A>G-
 2012-03-07
c.1932-57T>Cintron 4c.1932-57T>C-
 2008-03-01
c.1932-53C>Tintron 4c.1932-53C>T-
 2011-03-04
P651Sexon 5c.1951C>Tp.Pro651Ser
 2009-03-23
D657Vexon 5c.1970A>Tp.Asp657Val
 2007-05-28
L661Fexon 5c.1981 C>Tp.Leu661Phe
 2013-10-12
S673Xexon 5c.2018C>Gp.Ser673*
 2009-04-03
S675Texon 5c.2024G>Cp.Ser675Thr
 2009-06-17
L677PfsX6exon 5c.2030delTp.Leu677Profs*6
 2009-03-24
R693Wexon 5c.2077C>Tp.Arg693Trp
 2006-08-10
R693Gexon 5c.2077C>Gp.Arg693Gly
 2009-02-10
R693Pexon 5c.2078G>Cp.Arg693Pro
 2006-08-10
R693Qexon 5c.2078G>Ap.Arg693Gln
 2008-12-06
H698Hexon 5c.2094C>Tp.(=)
 2008-06-23
V699Iexon 5c.2095G>Ap.Val699Ile
 2009-06-17
R701Cexon 5c.2101C>Tp.Arg701Cys
 2008-07-11
c.2129+6T>Cintron 5c.2129+6T>C-
 2008-05-16
c.2129+38G>Cintron 5c.2129+38G>C-
 2008-03-01
c.2129+214C>Tintron 5c.2129+214C>T-
 2008-07-11
c.2129+313C>Gintron 5c.2129+313C>G-
 2008-07-11
c.2129+399G>Aintron 5c.2129+399G>A-
 2008-07-11
c.2129+432T>Cintron 5c.2129+432T>C-
 2008-07-11
c.2129+451C>Tintron 5c.2129+451C>T-
 2008-07-11
c.2130-718G>Aintron 5c.2130-718G>A-
 2008-07-11
c.2130-312_2300+736del1219intron 5c.2130-312_2300+736del1219-
 2010-04-06
c.2130-304C>Gintron 5c.2130-304C>G-
 2008-07-11
delEx6intron 5c.2130-266_2300+782delp.Ile711_Arg767del
 2014-09-24
c.2130-184delTintron 5c.2130-184delT-
 2011-03-04
c.2130-57A>Gintron 5c.2130-57A>G-
 2011-03-04
c.2130-41T>Gintron 5c.2130-41T>G-
 2008-03-01
c.2130-7_2131delintron 5c.2130-7_2131delp.Ile711_Arg767del
 2014-09-22
c.2130-2A>Gintron 5c.2130-2A>G-
 2013-06-25
V714Iexon 6c.2140G>Ap.Val714Ile
 2012-10-30
P716Aexon 6c.2146C>Gp.Pro716Ala
 2009-03-23
P716LfsX21exon 6c.2147delCp.Pro716Leufs*21
 2009-03-23
A719Vexon 6c.2156C>Tp.Ala719Val
 2008-07-07
R721Wexon 6c.2161C>Tp.Arg721Trp
 2008-06-23
R721Qexon 6c.2162G>Ap.Arg721Gln
 2009-12-17
D722Gexon 6c.2165A>Gp.Asp722Gly
 2008-07-11
I742Iexon 6c.2226C>Tp.(=)
 2012-10-17
L750Vexon 6c.2248C>Gp.Leu750Val
 2007-12-25
C761Yexon 6c.2282G>Ap.Cys761Tyr
 2009-03-23
c.2300+12G>Aintron 6c.2300+12G>A-
 2011-03-04
c.2300+17C>Aintron 6c.2300+17C>A-
 2008-01-03
c.2300+34T>Cintron 6c.2300+34T>C-
 2008-01-03
c.2300+47A>Gintron 6c.2300+47A>G-
 2009-07-28
c.2300+57T>Cintron 6c.2300+57T>C-
 2008-01-03
c.2300+128C>Tintron 6c.2300+128C>T-
 2008-03-01
c.2300+322C>Tintron 6c.2300+322C>T-
 2008-07-11
c.2300+331A>Gintron 6c.2300+331A>G-
 2008-07-11
c.2300+340delTintron 6c.2300+340delT-
 2011-03-04
c.2301-611_2377delintron 6c.2301-611_2377delp.Arg767Argfs*12
 2009-12-17
c.2301-58A>Gintron 6c.2301-58A>G-
 2011-03-04
c.2301-44A>Tintron 6c.2301-44A>T-
 2011-03-04
P775Pexon 7c.2325G>Ap.(=)
 2009-02-04
W778Xexon 7c.2334G>Ap.Trp778*
 2009-04-03
N788Nexon 7c.2364C>Tp.(=)
 2012-10-17
R795Cexon 7c.2383C>Tp.Arg795Cys
 2009-06-17
R815Hexon 7c.2444G>Ap.Arg815His
 2008-12-28
L820Cfs*29exon 7c.2458delCp.Leu820Cysfs*29
 2014-04-01
L823Xexon 7c.2468T>Ap.Leu823*
 2010-04-06
c.2471+1G>Aintron 7c.2471+1G>Ap.Leu825*
 2006-08-10
c.2471+47A>Gintron 7c.2471+47A>G-
 2012-02-29
c.2471+81_82insintron 7c.2471+81_82ins-
 2008-03-01
c.2472-181G>Aintron 7c.2472-181G>A-
 2008-07-11
c.2472-126A>Gintron 7c.2472-126A>G-
 2008-03-05
c.2472-67A>Gintron 7c.2472-67A>G-
 2008-03-01
c.2482_2483delTGexon 8c.2482_2483delTGp.Cys828Serfs*40
 2012-07-14
A833Texon 8c.2497G>Ap.Ala833Thr
 2009-06-17
I858HfsX11exon 8c.2571dupCp.Ile858Hisfs*11
 2009-12-17
Y872*exon 8c.2616C>Ap.Tyr872*
 2012-02-10
L880Sexon 8c.2639T>Cp.Leu880Ser
 2008-05-16
c.2642+114 G>Aintron 8c.2642+114 G>A-
 2009-07-28
c.2643-1390T>Cintron 8c.2643-1390T>C-
 2008-07-11
c.2643-364G>Tintron 8c.2643-364G>T-
 2008-07-11
c.2643-246T>Gintron 8c.2643-246T>G-
 2008-07-11
Y894Yexon 9c.2682T>Cp.(=)
 2007-05-28
A902Aexon 9c.2706C>Tp.(=)
 2008-03-01
N907Nexon 9c.2721C>Tp.(=)
 2008-05-16
N913Sexon 9c.2738A>Gp.Asn913Ser
 2006-08-10
W920*exon 9c.2759G>Ap.Trp920*
 2015-10-22
A925Aexon 9c.2775A>Gp.(=)
 2007-05-28
L926*exon 9c.2777T>Gp.Leu926*
 2013-06-05
C931Xexon 9c.2791_2792delTGp.Cys931*
 2009-06-17
c.2810+2T>Gintron 9c.2810+2T>G-
 2007-12-25
c.2810+26T>Cintron 9c.2810+26T>C-
 2008-07-11
c.2810+57T>Cintron 9c.2810+57T>C-
 2008-03-01
c.2810+98C>Tintron 9c.2810+98C>T-
 2008-01-03
c.2810+123G>Aintron 9c.2810+123G>A-
 2008-01-03
c.2810+126T>Cintron 9c.2810+126T>C-
 2008-01-03
c.2810+171T>Aintron 9c.2810+171T>A-
 2008-03-01
c.2810+176T>Cintron 9c.2810+176T>C-
 2011-03-04
c.2810+224G>Aintron 9c.2810+224G>A-
 2008-07-11
c.2810+276A>Gintron 9c.2810+276A>G-
 2011-03-04
c.2810+2699G>Cintron 9c.2810+2699G>C-
 2008-05-16
c.2811-1214C>Tintron 9c.2811-1214C>T-
 2008-07-11
c.2811-695T>Cintron 9c.2811-695T>C-
 2008-07-11
c.2811-678C>Aintron 9c.2811-678C>A-
 2008-07-11
c.2811-559A>Gintron 9c.2811-559A>G-
 2008-03-05
c.2811-527C>Tintron 9c.2811-527C>T-
 2011-03-04
c.2811-523C>Tintron 9c.2811-523C>T-
 2008-03-01
c.2811-496T>Cintron 9c.2811-496T>C-
 2008-03-01
c.2811-416C>Aintron 9c.2811-416C>A-
 2011-03-04
c.2811-402C>Tintron 9c.2811-402C>T-
 2008-03-01
c.2811-399A>Gintron 9c.2811-399A>G-
 2008-03-01
c.2811-394G>Tintron 9c.2811-394G>T-
 2008-03-01
c.2811-376G>Aintron 9c.2811-376G>A-
 2011-03-04
c.2811-329A>Gintron 9c.2811-329A>G-
 2008-03-01
c.2811-312C>Aintron 9c.2811-312C>A-
 2008-03-01
c.2811-279G>Tintron 9c.2811-279G>T-
 2011-03-04
c.2811-228T>Cintron 9c.2811-228T>C-
 2008-03-01
c.2811-194A>Tintron 9c.2811-194A>T-
 2011-03-04
c.2811-178G>Aintron 9c.2811-178G>A-
 2008-03-01
c.2811-135C>Tintron 9c.2811-135C>T-
 2008-07-11
c.2811-114G>Aintron 9c.2811-114G>A-
 2011-03-04
c.2811-54T>Gintron 9c.2811-54T>G-
 2008-01-03
c.2811-37C>Tintron 9c.2811-37C>T-
 2008-03-05
c.2811-34T>Gintron 9c.2811-34T>G-
 2008-03-01
c.2811-28C>Tintron 9c.2811-28C>T-
 2008-05-16
c.2811-25G>Cintron 9c.2811-25G>C-
 2008-08-21
c.2811-23A>Gintron 9c.2811-23A>G-
 2008-01-03
c.2811-15G>Aintron 9c.2811-15G>A-
 2014-09-16
L964Pexon 10c.2891T>Cp.Leu964Pro
 2008-05-16
G981Rfsexon 10c.2940_2941insCp.Gly981ArgfsX19
 2013-10-20
c.2981+29_32delGTTTintron 10c.2981+29_32delGTTT-
 2008-01-03
c.2981+33G>Tintron 10c.2981+33G>T-
 2008-07-11
c.2981+123T>Cintron 10c.2981+123T>C-
 2008-03-01
c.2981+142C>Aintron 10c.2981+142C>A-
 2008-03-01
c.2981+363T>Cintron 10c.2981+363T>C-
 2011-03-04
c.2982-401T>Cintron 10c.2982-401T>C-
 2011-03-04
c.2982-28delGintron 10c.2982-28delG-
 2008-01-03
c.2982-2A>Gintron 10c.2982-2A>G-
 2013-06-05
T1028Aexon 11c.3082A>Gp.Thr1028Ala
 2007-10-17
c.*5C>T3UTc.*5C>T-
 2011-03-04
c.*20C>T3UTc.*20C>T-
 2011-03-04
c.*44G>A3UTc.*44G>A-
 2011-03-04
c.*180G>C3UTc.*180G>C-
 2008-03-05
c.*236C>T3UTc.*236C>T-
 2011-03-04
c.*290T>C3 flankingc.*290T>C-
 2008-03-01