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

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
5 flankingc.-13413_2982-344delp.0
 2015-11-15
5 flankingc.-3998_2130-668delp.0
 2015-11-15
5 flankingc.-122G>A-
 2012-02-29
intron 1c.-40+21C>T-
 2008-03-07
intron 1c.-40+34T>G-
 2012-10-17
intron 1c.-40+36C>T-
 2008-03-07
intron 1c.-40+121G>A-
 2012-02-29
5 flankingc.-40+251_2130-681delp.0
 2015-11-15
intron 1c.-39-1769_2129+228del-
 2015-11-27
intron 1c.-39-792C>T-
 2008-07-11
intron 1c.-39-427T>C-
 2008-03-01
intron 1c.-39-393G>A-
 2008-03-01
intron 1c.-39-387_2129+265dupp.Glu710Aspfs*7
 2007-12-26
intron 1c.-39-300C>T-
 2008-03-07
5UTc.-39-231_2130-510delp.0
 2014-09-22
intron 1c.-39-90G>C-
 2008-07-11
intron 1c.-39-16C>T-
 2008-01-03
exon 2c.183delCp.Ser62Profs*6
 2009-03-23
exon 2c.197G>Ap.Trp66*
 2016-05-05
exon 2c.219C>Tp.(=)
 2009-06-17
exon 2c.251G>Ap.Cys84Tyr
 2007-08-15
intron 2c.277+1G>C-
 2011-09-02
intron 2c.278-134C>T-
 2014-09-16
intron 2c.278-68A>G-
 2012-06-28
exon 3c.295G>Tp.Glu99*
 2007-05-28
exon 3c.337dupGp.Glu113Glyfs*7
 2009-03-23
exon 3c.346A>Tp.Lys116*
 2009-04-03
intron 3c.352+1G>Ap.Gly118fs
 2006-08-10
intron 3c.352+231G>A-
 2008-07-11
intron 3c.353-235C>T-
 2008-07-11
intron 3c.353-234G>A-
 2011-03-04
intron 3c.353-231C>A-
 2011-03-04
intron 3c.353-227A>G-
 2011-03-04
intron 3c.353-216C>G-
 2008-03-01
intron 3c.353-178A>G-
 2008-03-01
intron 3c.353-111C>T-
 2008-03-05
intron 3c.353-71C>T-
 2008-05-16
intron 3c.353-56A>G-
 2008-01-03
intron 3c.353-52T>G-
 2011-03-04
exon 4c.390G>Ap.(=)
 2006-08-11
exon 4c.446A>Gp.Asp149Gly
 2012-10-30
exon 4c.467G>Ap.Arg156Gln
 2008-07-11
exon 4c.544G>Ap.Val182Met
 2011-10-30
exon 4c.574A>Cp.Met192Leu
 2008-07-11
exon 4c.584G>Ap.Trp195*
 2015-11-27
exon 4c.603C>Tp.(=)
 2007-10-31
exon 4c.628C>Tp.Leu210Phe
 2011-03-04
exon 4c.693G>Ap.Trp231*
 2012-07-14
exon 4c.701T>Cp.Leu234Ser
 2010-02-03
exon 4c.749T>Gp.Phe250Cys
 2010-07-22
exon 4c.750C>Ap.Phe250Leu
 2010-04-06
exon 4c.829A>Cp.Lys277Gln
 2008-07-11
exon 4c.835G>Tp.Val279Leu
 2012-10-30
exon 4c.915A>Cp.(=)
 2009-06-17
exon 4c.929A>Gp.Gln310Arg
 2010-07-22
exon 4c.930_931delGCp.Gln310Hisfs*38
 2009-07-02
exon 4c.930G>Tp.Leu311His
 2010-07-22
exon 4c.931C>Ap.Leu311Ile
 2010-07-22
exon 4c.939_952dup14p.Tyr318Cysfs*7
 2009-03-23
exon 4c.955G>Ap.Val319Ile
 2006-08-25
exon 4c.985A>Cp.Arg329Lys
 2007-11-21
exon 4c.1017C>Tp.(=)
 2012-03-07
exon 4c.1018G>Ap.Glu340Lys
 2011-01-12
exon 4c.1018_1019delGAp.Glu340Glnfs*8
 2011-03-04
exon 4c.1104T>Cp.(=)
 2009-06-17
exon 4c.1104T>Gp.Ile368Met
 2011-01-13
exon 4c.1137G>Ap.(=)
 2006-08-11
exon 4c.1137G>Cp.Lys379Asn
 2007-08-15
exon 4c.1138G>Cp.Gly380Arg
 2009-04-03
exon 4c.1148C>Tp.Pro383Leu
 2012-10-30
exon 4c.1169G>Ap.Arg390His
 2009-02-04
exon 4c.1171A>Gp.Thr391Ala
 2012-10-30
exon 4c.1182C>Tp.(=)
 2009-07-28
exon 4c.1193T>Gp.Leu398Arg
 2009-03-23
exon 4c.1196G>Ap.Cys399Tyr
 2007-08-15
exon 4c.1235T>Cp.Leu412Pro
 2012-10-30
exon 4c.1237C>Tp.Arg413Trp
 2011-01-12
exon 4c.1238G>Ap.Arg413Gln
 2012-02-23
exon 4c.1280T>Cp.Met427Thr
 2009-02-04
exon 4c.1288T>Cp.Phe430Leu
 2009-03-03
exon 4c.1290C>Tp.(=)
 2009-02-04
exon 4c.1294C>Tp.Arg432*
 2008-07-11
exon 4c.1302C>Tp.(=)
 2009-02-04
exon 4c.1305G>Tp.(=)
 2012-02-29
exon 4c.1362C>Tp.(=)
 2011-01-26
exon 4c.1374_1375delAGp.Arg458Serfs*69
 2014-04-01
exon 4c.1441G>Ap.Ala481Thr
 2007-10-17
exon 4c.1456dupGp.Glu486Glyfs*42
 2009-04-03
exon 4c.1460G>Ap.Gly487Glu
 2007-10-23
exon 4c.1480G>Ap.Ala494Thr
 2011-10-30
exon 4c.1491C>Tp.(=)
 2007-10-17
exon 4c.1492G>Ap.Gly498Arg
 2009-02-04
exon 4c.1517_1518ins22p.Glu508Aspfs*27
 2013-06-25
exon 4c.1532A>Gp.Lys511Arg
 2008-05-16
exon 4c.1537C>Tp.Pro513Ser
 2012-03-07
exon 4c.1625_1700del76p.Met542Thrfs*2
 2010-04-06
exon 4c.1708G>Tp.Glu570*
 2009-01-28
exon 4c.1725G>Tp.(=)
 2007-10-23
exon 4c.1770G>Ap.(=)
 2012-06-27
exon 4c.1823C>Tp.Ser608Phe
 2012-10-30
exon 4c.1908dupp.Glu637*
 2015-10-22
intron 4c.1931+18A>T-
 2008-07-11
intron 4c.1931+43C>T-
 2008-07-11
intron 4c.1931+49C>T-
 2011-03-04
intron 4c.1931+110T>C-
 2008-07-11
intron 4c.1931+176G>T-
 2008-07-11
intron 4c.1931+226C>G-
 2008-07-11
intron 4c.1932-296A>T-
 2011-03-04
intron 4c.1932-178delT-
 2008-03-01
intron 4c.1932-146C>T-
 2008-03-01
intron 4c.1932-103G>C-
 2008-03-01
intron 4c.1932-71A>G-
 2012-03-07
intron 4c.1932-57T>C-
 2008-03-01
intron 4c.1932-53C>T-
 2011-03-04
exon 5c.1951C>Tp.Pro651Ser
 2009-03-23
exon 5c.1970A>Tp.Asp657Val
 2007-05-28
exon 5c.1981 C>Tp.Leu661Phe
 2013-10-12
exon 5c.2018C>Gp.Ser673*
 2009-04-03
exon 5c.2024G>Cp.Ser675Thr
 2009-06-17
exon 5c.2030delTp.Leu677Profs*6
 2009-03-24
exon 5c.2077C>Tp.Arg693Trp
 2006-08-10
exon 5c.2077C>Gp.Arg693Gly
 2009-02-10
exon 5c.2078G>Cp.Arg693Pro
 2006-08-10
exon 5c.2078G>Ap.Arg693Gln
 2008-12-06
exon 5c.2094C>Tp.(=)
 2008-06-23
exon 5c.2095G>Ap.Val699Ile
 2009-06-17
exon 5c.2101C>Tp.Arg701Cys
 2008-07-11
intron 5c.2129+6T>C-
 2008-05-16
intron 5c.2129+38G>C-
 2008-03-01
intron 5c.2129+214C>T-
 2008-07-11
intron 5c.2129+313C>G-
 2008-07-11
intron 5c.2129+399G>A-
 2008-07-11
intron 5c.2129+432T>C-
 2008-07-11
intron 5c.2129+451C>T-
 2008-07-11
intron 5c.2130-718G>A-
 2008-07-11
intron 5c.2130-312_2300+736del1219-
 2010-04-06
intron 5c.2130-304C>G-
 2008-07-11
intron 5c.2130-266_2300+782delp.Ile711_Arg767del
 2014-09-24
intron 5c.2130-184delT-
 2011-03-04
intron 5c.2130-57A>G-
 2011-03-04
intron 5c.2130-41T>G-
 2008-03-01
intron 5c.2130-7_2131delp.Ile711_Arg767del
 2014-09-22
intron 5c.2130-2A>G-
 2013-06-25
exon 6c.2140G>Ap.Val714Ile
 2012-10-30
exon 6c.2146C>Gp.Pro716Ala
 2009-03-23
exon 6c.2147delCp.Pro716Leufs*21
 2009-03-23
exon 6c.2156C>Tp.Ala719Val
 2008-07-07
exon 6c.2161C>Tp.Arg721Trp
 2008-06-23
exon 6c.2162G>Ap.Arg721Gln
 2009-12-17
exon 6c.2165A>Gp.Asp722Gly
 2008-07-11
exon 6c.2226C>Tp.(=)
 2012-10-17
exon 6c.2248C>Gp.Leu750Val
 2007-12-25
exon 6c.2282G>Ap.Cys761Tyr
 2009-03-23
intron 6c.2300+12G>A-
 2011-03-04
intron 6c.2300+17C>A-
 2008-01-03
intron 6c.2300+34T>C-
 2008-01-03
intron 6c.2300+47A>G-
 2009-07-28
intron 6c.2300+57T>C-
 2008-01-03
intron 6c.2300+128C>T-
 2008-03-01
intron 6c.2300+322C>T-
 2008-07-11
intron 6c.2300+331A>G-
 2008-07-11
intron 6c.2300+340delT-
 2011-03-04
intron 6c.2301-611_2377delp.Arg767Argfs*12
 2009-12-17
intron 6c.2301-58A>G-
 2011-03-04
intron 6c.2301-44A>T-
 2011-03-04
exon 7c.2325G>Ap.(=)
 2009-02-04
exon 7c.2334G>Ap.Trp778*
 2009-04-03
exon 7c.2364C>Tp.(=)
 2012-10-17
exon 7c.2383C>Tp.Arg795Cys
 2009-06-17
exon 7c.2444G>Ap.Arg815His
 2008-12-28
exon 7c.2458delCp.Leu820Cysfs*29
 2014-04-01
exon 7c.2468T>Ap.Leu823*
 2010-04-06
intron 7c.2471+1G>Ap.Leu825*
 2006-08-10
intron 7c.2471+47A>G-
 2012-02-29
intron 7c.2471+81_82ins-
 2008-03-01
intron 7c.2472-181G>A-
 2008-07-11
intron 7c.2472-126A>G-
 2008-03-05
intron 7c.2472-67A>G-
 2008-03-01
exon 8c.2482_2483delTGp.Cys828Serfs*40
 2012-07-14
exon 8c.2497G>Ap.Ala833Thr
 2009-06-17
exon 8c.2571dupCp.Ile858Hisfs*11
 2009-12-17
exon 8c.2616C>Ap.Tyr872*
 2012-02-10
exon 8c.2639T>Cp.Leu880Ser
 2008-05-16
intron 8c.2642+114 G>A-
 2009-07-28
intron 8c.2643-1390T>C-
 2008-07-11
intron 8c.2643-364G>T-
 2008-07-11
intron 8c.2643-246T>G-
 2008-07-11
exon 9c.2682T>Cp.(=)
 2007-05-28
exon 9c.2706C>Tp.(=)
 2008-03-01
exon 9c.2721C>Tp.(=)
 2008-05-16
exon 9c.2738A>Gp.Asn913Ser
 2006-08-10
exon 9c.2759G>Ap.Trp920*
 2015-10-22
exon 9c.2775A>Gp.(=)
 2007-05-28
exon 9c.2777T>Gp.Leu926*
 2013-06-05
exon 9c.2791_2792delTGp.Cys931*
 2009-06-17
intron 9c.2810+2T>G-
 2007-12-25
intron 9c.2810+26T>C-
 2008-07-11
intron 9c.2810+57T>C-
 2008-03-01
intron 9c.2810+98C>T-
 2008-01-03
intron 9c.2810+123G>A-
 2008-01-03
intron 9c.2810+126T>C-
 2008-01-03
intron 9c.2810+171T>A-
 2008-03-01
intron 9c.2810+176T>C-
 2011-03-04
intron 9c.2810+224G>A-
 2008-07-11
intron 9c.2810+276A>G-
 2011-03-04
intron 9c.2810+2699G>C-
 2008-05-16
intron 9c.2811-1214C>T-
 2008-07-11
intron 9c.2811-695T>C-
 2008-07-11
intron 9c.2811-678C>A-
 2008-07-11
intron 9c.2811-559A>G-
 2008-03-05
intron 9c.2811-527C>T-
 2011-03-04
intron 9c.2811-523C>T-
 2008-03-01
intron 9c.2811-496T>C-
 2008-03-01
intron 9c.2811-416C>A-
 2011-03-04
intron 9c.2811-402C>T-
 2008-03-01
intron 9c.2811-399A>G-
 2008-03-01
intron 9c.2811-394G>T-
 2008-03-01
intron 9c.2811-376G>A-
 2011-03-04
intron 9c.2811-329A>G-
 2008-03-01
intron 9c.2811-312C>A-
 2008-03-01
intron 9c.2811-279G>T-
 2011-03-04
intron 9c.2811-228T>C-
 2008-03-01
intron 9c.2811-194A>T-
 2011-03-04
intron 9c.2811-178G>A-
 2008-03-01
intron 9c.2811-135C>T-
 2008-07-11
intron 9c.2811-114G>A-
 2011-03-04
intron 9c.2811-54T>G-
 2008-01-03
intron 9c.2811-37C>T-
 2008-03-05
intron 9c.2811-34T>G-
 2008-03-01
intron 9c.2811-28C>T-
 2008-05-16
intron 9c.2811-25G>C-
 2008-08-21
intron 9c.2811-23A>G-
 2008-01-03
intron 9c.2811-15G>A-
 2014-09-16
exon 10c.2891T>Cp.Leu964Pro
 2008-05-16
exon 10c.2940_2941insCp.Gly981Argfs*19
 2013-10-20
intron 10c.2981+29_32delGTTT-
 2008-01-03
intron 10c.2981+33G>T-
 2008-07-11
intron 10c.2981+123T>C-
 2008-03-01
intron 10c.2981+142C>A-
 2008-03-01
intron 10c.2981+363T>C-
 2011-03-04
intron 10c.2982-401T>C-
 2011-03-04
intron 10c.2982-28delG-
 2008-01-03
intron 10c.2982-2A>G-
 2013-06-05
exon 11c.3082A>Gp.Thr1028Ala
 2007-10-17
3UTc.*5C>T-
 2011-03-04
3UTc.*20C>T-
 2011-03-04
3UTc.*44G>A-
 2011-03-04
3UTc.*180G>C-
 2008-03-05
3UTc.*236C>T-
 2011-03-04
3 flankingc.*290T>C-
 2008-03-01