TNFRSF1A (NM_001065.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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

Total current number of sequence variants for TNFRSF1A : 141

Important note: To comply with the correct nomenclature:
1. The numbering of the amino acids for TNFRSF1A has not followed the general rule of starting with the translation initiator methionine, as most publications have started numbering after the leading sequence, i.e. leucine at residue 30. In this database we have decided to use both of the nomenclatures. The "usual name" (e.g. Y20H), is now followed by the correct nomenclature at the c.DNA (e.g. c.145T>C) and protein level (e.g. p.Tyr20His becomes p.Tyr49His).
2. The numbering of introns has changed, and might be different from the literature. It is now such that intron 1 follows (and do not precede) exon 1, intron 2 follows (and do not precede) exon 2 etc...

*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
-609 G/T5 flankingc.-610G>T-
 2003-04-23
-580 A/G5 flankingc.-581A>G-
 2003-08-04
c.-559G>A5 flankingc.-559G>A-
 2011-06-10
-508 A/G5UTc.-508A>G-
 2003-07-14
-383 A/C5 flankingc.-383A>C-
 2003-04-25
c.36 A>Gexon 1c.36A>Gp.(=)
 2003-04-25
c.39+97G>Aintron 1c.39+97G>A-
 2011-06-10
c.39+1899(GT)n(GA)nintron 1c.39+1899(GT)17(GA)10-
 2003-07-14
c.40-3367C>Tintron 1c.40-3367C>T-
 2012-06-01
c.40-981C>Tintron 1c.40-981C>T-
 2011-06-10
c.59T>Cexon 2c.59T>Cp.Val20Ala
 2011-08-24
D12Eexon 2c.123T>Gp.Asp41Glu
 2006-03-09
Y20Hexon 2c.145T>Cp.Tyr49His
 2002-10-25
Y20Dexon 2c.145T>Gp.Tyr49Asp
 2003-11-21
Y20Cexon 2c.146A>Gp.Tyr49Cys
 2012-10-23
H22Yexon 2c.151C>Tp.His51Tyr
 2002-01-25
H22Rexon 2c.152A>Gp.His51Arg
 2008-12-08
H22Qexon 2c.153C>Gp.His51Gln
 2004-02-10
N25Dexon 2c.160A>Gp.Asn54Asp
 2011-09-02
S27Sexon 2c.168G>Ap.(=)
 2006-06-15
I28Sexon 2c.170T>Gp.Ile57Ser
 2012-07-03
C29Rexon 2c.172T>Cp.Cys58Arg
 2011-05-17
C29G exon 2c.172T>Gp.Cys58Gly
 2013-08-16
C29Fexon 2c.173G>Tp.Cys58Phe
 2002-02-12
C29Yexon 2c.173G>Ap.Cys58Tyr
 2006-03-09
C29Sexon 2c.173G>Cp.Cys58Ser
 2013-02-05
C30Rexon 2c.175T>Cp.Cys59Arg
 2002-01-02
C30Sexon 2c.176G>Cp.Cys59Ser
 2002-01-03
C30Yexon 2c.176G>Ap.Cys59Tyr
 2004-10-05
C30Fexon 2c.176G>Tp.Cys59Phe
 2007-05-21
C33Gexon 2c.184T>Gp.Cys62Gly
 2002-01-08
C33Yexon 2c.185G>Ap.Cys62Tyr
 2002-01-02
c.194-80C>Tintron 2c.194-80C>T-
 2011-12-22
c.194-29G>Aintron 2c.194-29G>A-
 2005-01-06
c.194 -18_-17delCTintron 2c.194-18_-17del CT-
 2006-01-09
c.194-15C>Tintron 2c.194-15C>T-
 2004-12-07
c.193-14G>Aintron 2c.194-14G>A-
 2003-02-12
G36Eexon 3c.194G>Ap.Gly65Glu
 2002-11-18
T37Iexon 3c.197C>Tp.Thr66Ile
 2003-04-23
Y38Cexon 3c.200A>Gp.Tyr67Cys
 2002-02-12
Y38Sexon 3c.200A>Cp.Tyr67Ser
 2009-11-02
L39Fexon 3c.204G>Cp.Leu68Phe
 2005-02-28
D42DELexon 3c.211_213delGACp.Asp71del
 2003-05-16
D42Eexon 3c.213C>Ap.Asp71Glu
 2014-09-22
C43Rexon 3c.214T>Cp.Cys72Arg
 2002-10-31
C43Gexon 3c.214T>Gp.Cys72Gly
 2011-05-26
C43Yexon 3c.215G>Ap.Cys72Tyr
 2004-02-05
C43Sexon 3c.215G>Cp.Cys72Ser
 2005-05-09
C43Fexon 3c.215G>Tp.Cys72Phe
 2014-09-22
P46Lexon 3c.224C>Tp.Pro75Leu
 2002-03-18
G47Gexon 3c.228G>Ap.(=)
 2006-03-09
T50Mexon 3c.236C>Tp.Thr79Met
 2002-01-02
T50Kexon 3c.236C>Ap.Thr79Lys
 2003-09-16
C52Rexon 3c.241T>Cp.Cys81Arg
 2002-06-18
C52Fexon 3c.242G>Tp.Cys81Phe
 2002-01-02
C52Yexon 3c.242G>Ap.Cys81Tyr
 2006-03-09
C52Sexon 3c.242G>Cp.Cys81Ser
 2007-09-04
C52Wexon 3c.243C>Gp.Cys81Trp
 2010-01-29
R53Gexon 3c.244A>Gp.Arg82Gly
 2013-08-16
E54Eexon 3c.249G>Ap.(=)
 2005-07-26
C55Rexon 3c.250T>Cp.Cys84Arg
 2004-02-05
C55Sexon 3c.251G>Cp.Cys84Ser
 2002-01-03
C55Yexon 3c.251G>Ap.Cys84Tyr
 2006-03-09
S57_E64delexon 3c.255_278delp.Ser86_Glu93del
 2013-07-19
G58Sexon 3c.259G>Ap.Glys87Ser
 2013-02-05
S59Pexon 3c.262T>Cp.Ser88Pro
 2009-10-17
F60L(264C>G)exon 3c.265T>Cp.Phe89Leu
 2003-05-07
F60Vexon 3c.265T>Gp.Phe89Val
 2006-01-23
F60Sexon 3c.266T>Cp.Phe60Ser
 2006-05-12
F60L(267A>G)exon 3c.267C>Ap.Phe89Leu
 2005-12-12
T61Iexon 3c.269C>Tp.Thr90Ile
 2004-08-05
T61Nexon 3c.269C>Ap.Thr90Asn
 2008-08-05
N65Iexon 3c.281A>Tp.Asn94Ile
 2003-04-23
H66Yexon 3c.283 C>Tp.His95Tyr
 2008-12-22
H66Lexon 3c.284A>Tp.His95Leu
 2010-02-09
L67Pexon 3c.287T>Cp.Leu96Pro
 2002-06-25
H69fsexon 3c.293_295delp.His98_Cys99delinsArg
 2005-01-11
C70Rexon 3c.295T>Cp.Cys99Arg
 2002-02-12
C70Sexon 3c.295T>Ap.Cys99Ser
 2002-12-11
C70Gexon 3c.295T>Gp.Cys99Gly
 2004-10-25
C70Yexon 3c.296G>Ap.Cys99Tyr
 2002-03-18
C73Rexon 3c.304T>Cp.Cys102Arg
 2002-09-21
C73Wexon 3c.306C>Gp.Cys102Trp
 2003-10-20
S74Cexon 3c.308C>Gp.Ser103Cys
 2007-05-21
323-32A>Gintron 3c.323-32A>G-
 2007-01-06
Q82Kexon 4c.331C>Ap.Gln111Lys
2010-07-27
V83Lexon 4c.334G>Tp.Val112Leu
2009-12-19
V83M exon 4c.334G>Ap.Val112Met
 2012-07-03
S86Pexon 4c.343T>Cp.Ser115Pro
 2002-01-14
C88Rexon 4c.349T>Cp.Cys117Arg
 2002-01-02
C88Yexon 4c.350G>Ap.Cys117Tyr
 2002-01-02
C88Sexon 4c.350_351delinsCAp.Cys117Ser
 2011-08-02
T89Aexon 4c.352A>Gp.Thr118Ala
 2010-04-06
R92Wexon 4c.361C>Tp.Arg121Trp
 2006-04-05
R92Pexon 4c.362G>Cp.Arg121Pro
 2002-01-03
R92Qexon 4c.362G>Ap.Arg121Gln
 2002-01-25
D93Hexon 4c.364G>Cp.Asp122His
 2013-02-05
D93Eexon 4c.366C>Gp.Asp122Glu
 2013-05-06
T94Texon 4c.369C>Tp.(=)
 2004-12-10
V95Mexon 4c.370G>Ap.Val124Met
 2006-04-13
C96Yexon 4c.374G>Ap.Cys125Tyr
 2002-06-25
C96Fexon 4c.374G>Tp.Cys125Phe
 2012-10-30
C96Wexon 4c.375T>Gp.Cys125Trp
 2014-09-26
C98Rexon 4c.379T>Cp.Cys127Arg
 2013-02-05
C98Yexon 4c.380G>Ap.Cys127Tyr
 2003-02-14
N101Kexon 4c.390C>Gp.Asn130Lys
 2011-09-02
Y103_R104DELexon 4c.394_399delp.Tyr132_Arg133del
 2010-03-18
R104Qexon 4c.398G>Ap.Arg133Gln
 2004-10-25
H105Pexon 4c.401A>Cp.His134Pro
 2007-07-09
Y106Cexon 4c.404A>Gp.Tyr135Cys
 2013-08-27
E109Aexon 4c.413A>Cp.Glu138Ala
 2008-02-25
F112Iexon 4c.421T>Ap.Phe141Ile
 2002-06-25
F112Lexon 4c.421T>Cp.Phe141Leu
 2013-02-05
F112Cexon 4c.422T>Gp.Phe141Cys
 2010-08-31
F112Sexon 4c.422T>Cp.Phe141Ser
 2012-06-15
C114Wexon 4c.429C>Gp.Cys143Trp
 2013-07-03
N116Sexon 4c.434A>Gp.Asn145Ser
 2008-08-05
T124Texon 4c.459C>Tp.(=)
 2013-01-24
c.472+1G>Aintron 4c.472+1G>Ap.Cys158delinsYERSSPEAKPSPHPRG
 2008-04-11
c.472+6C>Tintron 4c.472+6C>T-
 2006-04-13
c.472+17T>Cintron 4c.472+17T>C-
 2013-05-06
c.472+64C>Tintron 4c.472+64C>T-
 2006-04-05
c.473-72G>Aintron 4c.473-72G>A-
 2004-03-11
c.473-33C>Tintron 4c.473-33C>T-
 2003-04-25
c.473-16 G>Aintron 4c.473-16G>A-
 2004-01-09
c.552-89A>Tintron 5c.552-89A>T-
 2005-05-19
K157Kexon 6c.558G>Ap.(=)
 2006-03-09
L167_G175delexon 6c.586_612del27p.Leu196_Gly204del
 2006-03-09
I170Nexon 6c.596T>Ap.Ile199Asn
 2003-08-18
V173Dexon 6c.605T>Ap.Val202Asp
 2008-01-11
c.625+10A/Gintron 6c.625+10A>G-
 2003-07-14
c.626-33 intron 6c.626-33C>T-
 2012-02-21
c.626-32G>Tintron 6c.626-32G>T-
 2010-09-29
S197Cexon 7c.677C>Gp.Ser226Cys
 2011-10-13
S197Sexon 7c.678C>Gp.(=)
 2004-11-26
c.218-9T>Cintron 7c.740-9T>C-
 2003-08-05
c.768+42delAintron 8c.768+42delA-
 2013-06-06
c.769-23T>Cintron 8c.769-23T>C-
 2010-07-28
L330Lexon 10c.1075C>Tp.(=)
 2011-06-10
Y331Xexon 10c.1080C>Gp.Tyr360*
 2009-03-30
R341Rexon 10c.1110C>Tp.(=)
 2013-05-06