TNFRSF1A (NM_001065.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFRSF1A : 158

*This classification is proposed by the INSAID study group. Ref. If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
intron 8c.769-5T>C-Likely benignVALIDATED
 2017-09-05
exon 1c.15C>Tp.(=)Likely benignVALIDATED
 2017-08-21
exon 3c.314G>Ap.Cys105Tyr Likely pathogenicVALIDATED
 2017-08-18
exon 4c.427T>Cp.Cys143Arg Likely pathogenicVALIDATED
 2017-08-18
exon 2c.174C>Gp.Cys58TrpLikely pathogenicVALIDATED
 2017-08-18
exon 2c.81T>Cp.(=)Likely benignVALIDATED
 2017-08-18
exon 4c.373T>Cp.Cys125ArgLikely pathogenicVALIDATED
 2017-08-16
exon 6c.596T>Cp.Ile199ThrNot classifiedTo be validated
 2017-07-13
exon 9c.935G>Ap.Arg312LysNot classifiedTo be validated
 2017-02-22
exon 2c.131G>Ap.Cys44TyrLikely pathogenicVALIDATED
 2017-01-23
exon 3c.268A>Cp.Thr90ProNot classifiedTo be validated
 2016-12-30
exon 4c.463C>Tp.His155TyrNot classifiedTo be validated
 2016-10-13
exon 3c.255G>Cp.Glu85AspLikely pathogenicVALIDATED
 2015-07-31
exon 3c.282C>Gp.Asn94LysLikely pathogenicVALIDATED
 2015-07-20
exon 4c.397C>Tp.Arg133TrpLikely pathogenicVALIDATED
 2015-03-11
intron 6c.625+53C>T-Likely benignVALIDATED
 2014-10-03
exon 4c.375T>Gp.Cys125TrpPathogenicVALIDATED
 2014-09-26
exon 3c.215G>Tp.Cys72PhePathogenicVALIDATED
 2014-09-22
exon 3c.213C>Ap.Asp71GluLikely pathogenicPROVISIONAL
 2014-09-22
exon 3c.284A>Cp.His95ProLikely pathogenicPROVISIONAL
 2013-08-30
exon 4c.404A>Gp.Tyr135CysLikely pathogenicPROVISIONAL
 2013-08-27
exon 2c.172T>Gp.Cys58GlyPathogenicVALIDATED
 2013-08-16
exon 3c.244A>Gp.Arg82GlyUncertain significance (VOUS)PROVISIONAL
 2013-08-16
exon 3c.255_278delp.Ser86_Glu93delLikely pathogenicVALIDATED
 2013-07-19
exon 4c.429C>Gp.Cys143TrpLikely pathogenicVALIDATED
 2013-07-03
intron 8c.768+42delA-Likely benignVALIDATED
 2013-06-06
exon 4c.366C>Gp.Asp122GluUncertain significance (VOUS)VALIDATED
 2013-05-06
intron 4c.472+17T>C-Likely benignVALIDATED
 2013-05-06
exon 10c.1110C>Tp.(=)Likely benignVALIDATED
 2013-05-06
exon 2c.173G>Cp.Cys58SerPathogenicVALIDATED
 2013-02-05
exon 4c.379T>Cp.Cys127ArgPathogenicVALIDATED
 2013-02-05
exon 4c.421T>Cp.Phe141LeuLikely pathogenicVALIDATED
 2013-02-05
exon 3c.259G>Ap.Gly87SerLikely pathogenicPROVISIONAL
 2013-02-05
exon 4c.364G>Cp.Asp122HisLikely pathogenicPROVISIONAL
 2013-02-05
exon 4c.459C>Tp.(=)Likely benignVALIDATED
 2013-01-24
exon 4c.374G>Tp.Cys125PhePathogenicVALIDATED
 2012-10-30
exon 2c.146A>Gp.Tyr49CysLikely pathogenicVALIDATED
 2012-10-23
exon 4c.334G>Ap.Val112MetLikely pathogenicPROVISIONAL
 2012-07-03
exon 2c.170T>Gp.Ile57SerUncertain significance (VOUS)VALIDATED
 2012-07-03
exon 4c.422T>Cp.Phe141SerLikely pathogenicVALIDATED
 2012-06-15
intron 1c.40-3367C>T-Likely benignVALIDATED
 2012-06-01
intron 6c.626-33C>T-Likely benignVALIDATED
 2012-02-21
intron 2c.194-80C>T-Likely benignVALIDATED
 2011-12-22
exon 7c.677C>Gp.Ser226CysUncertain significance (VOUS)VALIDATED
 2011-10-13
exon 4c.390C>Gp.Asn130LysLikely pathogenicPROVISIONAL
 2011-09-02
exon 2c.160A>Gp.Asn54AspUncertain significance (VOUS)PROVISIONAL
 2011-09-02
exon 2c.59T>Cp.Val20AlaUncertain significance (VOUS)PROVISIONAL
 2011-08-24
exon 4c.350_351delinsCAp.Cys117SerLikely pathogenicVALIDATED
 2011-08-02
5 flankingc.-559G>A-Not classifiedTo be validated
 2011-06-10
intron 1c.39+97G>A-Likely benignVALIDATED
 2011-06-10
intron 1c.40-981C>T-Likely benignVALIDATED
 2011-06-10
exon 10c.1075C>Tp.(=)Likely benignVALIDATED
 2011-06-10
exon 3c.214T>Gp.Cys72GlyPathogenicVALIDATED
 2011-05-26
exon 2c.172T>Cp.Cys58ArgPathogenicVALIDATED
 2011-05-17
intron 6c.626-32G>T-Likely benignVALIDATED
 2010-09-29
exon 4c.422T>Gp.Phe141CysLikely pathogenicVALIDATED
 2010-08-31
intron 8c.769-23T>C-Likely benignVALIDATED
 2010-07-28
exon 4c.331C>Ap.Gln111LysUncertain significance (VOUS)VALIDATED
2010-07-27
exon 4c.352A>Gp.Thr118AlaUncertain significance (VOUS)PROVISIONAL
 2010-04-06
exon 4c.394_399delp.Tyr132_Arg133delLikely pathogenicVALIDATED
 2010-03-18
exon 3c.284A>Tp.His95LeuLikely pathogenicPROVISIONAL
 2010-02-09
exon 3c.243C>Gp.Cys81TrpPathogenicVALIDATED
 2010-01-29
exon 4c.334G>Tp.Val112LeuLikely pathogenicPROVISIONAL
2009-12-19
exon 3c.200A>Cp.Tyr67SerLikely pathogenicVALIDATED
 2009-11-02
exon 3c.262T>Cp.Ser88ProLikely pathogenicVALIDATED
 2009-10-17
exon 10c.1080C>Gp.Tyr360*Likely pathogenicPROVISIONAL
 2009-03-30
exon 3c.283C>Tp.His95TyrLikely pathogenicPROVISIONAL
 2008-12-22
exon 2c.152A>Gp.His51ArgLikely pathogenicVALIDATED
 2008-12-08
exon 3c.269C>Ap.Thr90AsnLikely pathogenicVALIDATED
 2008-08-05
exon 4c.434A>Gp.Asn145SerUncertain significance (VOUS)VALIDATED
 2008-08-05
intron 4c.472+1G>Ap.Cys158delinsYERSSPEAKPSPHPRGLikely pathogenicVALIDATED
 2008-04-11
exon 4c.413A>Cp.Glu138AlaLikely benignPROVISIONAL
 2008-02-25
exon 6c.605T>Ap.Val202AspLikely pathogenicPROVISIONAL
 2008-01-11
exon 3c.242G>Cp.Cys81SerPathogenicVALIDATED
 2007-09-04
exon 4c.401A>Cp.His134ProUncertain significance (VOUS)PROVISIONAL
 2007-07-09
exon 2c.176G>Tp.Cys59PhePathogenicVALIDATED
 2007-05-21
exon 3c.308C>Gp.Ser103CysLikely pathogenicVALIDATED
 2007-05-21
intron 3c.323-32A>G-Likely benignVALIDATED
 2007-01-06
exon 2c.168G>Ap.(=)Likely benignVALIDATED
 2006-06-15
exon 3c.266T>Cp.Phe89SerLikely pathogenicVALIDATED
 2006-05-12
intron 4c.472+6C>T-Likely benignVALIDATED
 2006-04-13
exon 4c.370G>Ap.Val124MetLikely pathogenicVALIDATED
 2006-04-13
intron 4c.472+64C>T-Likely benignVALIDATED
 2006-04-05
exon 4c.361C>Tp.Arg121TrpLikely pathogenicPROVISIONAL
 2006-04-05
exon 3c.242G>Ap.Cys81TyrPathogenicVALIDATED
 2006-03-09
exon 3c.251G>Ap.Cys84TyrPathogenicVALIDATED
 2006-03-09
exon 2c.123T>Gp.Asp41GluUncertain significance (VOUS)VALIDATED
 2006-03-09
exon 6c.586_612del27p.Leu196_Gly204delLikely pathogenicVALIDATED
 2006-03-09
exon 2c.173G>Ap.Cys58TyrPathogenicVALIDATED
 2006-03-09
exon 3c.228G>Ap.(=)Likely benignVALIDATED
 2006-03-09
exon 6c.558G>Ap.(=)Likely benignVALIDATED
 2006-03-09
exon 3c.265T>Gp.Phe89ValLikely pathogenicVALIDATED
 2006-01-23
intron 2c.194-18_194-17del-Not classifiedTo be validated
 2006-01-09
exon 3c.267C>Ap.Phe89LeuPathogenicVALIDATED
 2005-12-12
exon 3c.249G>Ap.(=)Likely benignVALIDATED
 2005-07-26
intron 5c.552-89A>T-Likely benignVALIDATED
 2005-05-19
exon 3c.215G>Cp.Cys72SerPathogenicVALIDATED
 2005-05-09
exon 3c.204G>Cp.Leu68PheLikely pathogenicVALIDATED
 2005-02-28
exon 3c.293_295delp.His98_Cys99delinsArgLikely pathogenicVALIDATED
 2005-01-11
intron 2c.194-29G>A-Likely benignVALIDATED
 2005-01-06
exon 4c.369C>Tp.(=)Likely benignVALIDATED
 2004-12-10
intron 2c.194-15C>T-Likely benignVALIDATED
 2004-12-07
exon 7c.678C>Gp.(=)Likely benignVALIDATED
 2004-11-26
exon 3c.295T>Gp.Cys99GlyPathogenicVALIDATED
 2004-10-25
exon 4c.398G>Ap.Arg133GlnUncertain significance (VOUS)VALIDATED
 2004-10-25
exon 2c.176G>Ap.Cys59TyrPathogenicVALIDATED
 2004-10-05
exon 3c.269C>Tp.Thr90IleLikely pathogenicPROVISIONAL
 2004-08-05
intron 4c.473-72G>A-Likely benignVALIDATED
 2004-03-11
exon 2c.153C>Gp.His51GlnLikely pathogenicPROVISIONAL
 2004-02-10
exon 3c.215G>Ap.Cys72TyrPathogenicVALIDATED
 2004-02-05
exon 3c.250T>Cp.Cys84ArgPathogenicVALIDATED
 2004-02-05
intron 4c.473-16G>A-Likely benignVALIDATED
 2004-01-09
exon 2c.145T>Gp.Tyr49AspPathogenicVALIDATED
 2003-11-21
exon 3c.306C>Gp.Cys102TrpLikely pathogenicVALIDATED
 2003-10-20
exon 3c.236C>Ap.Thr79LysLikely pathogenicVALIDATED
 2003-09-16
exon 6c.596T>Ap.Ile199AsnLikely pathogenicVALIDATED
 2003-08-18
intron 7c.740-9T>C-Likely benignVALIDATED
 2003-08-05
5 flankingc.-581A>G-Not classifiedTo be validated
 2003-08-04
5 flankingc.-508A>G-Not classifiedTo be validated
 2003-07-14
intron 1c.39+1899(GT)17(GA)10-Not classifiedTo be validated
 2003-07-14
intron 6c.625+10A>G-Likely benignVALIDATED
 2003-07-14
exon 3c.211_213delGACp.Asp71delPathogenicVALIDATED
 2003-05-16
exon 3c.265T>Cp.Phe89LeuPathogenicVALIDATED
 2003-05-07
intron 4c.473-33T>C-Likely benignVALIDATED
 2003-04-25
exon 1c.36A>Gp.(=)BenignVALIDATED
 2003-04-25
5 flankingc.-383A>C-Not classifiedTo be validated
 2003-04-25
exon 3c.197C>Tp.Thr66IleLikely pathogenicPROVISIONAL
 2003-04-23
5 flankingc.-610G>T-Not classifiedTo be validated
 2003-04-23
exon 3c.281A>Tp.Asn94IlePathogenicVALIDATED
 2003-04-23
exon 4c.380G>Ap.Cys127TyrPathogenicVALIDATED
 2003-02-14
intron 2c.194-14G>A-PathogenicVALIDATED
 2003-02-12
exon 3c.295T>Ap.Cys99SerPathogenicVALIDATED
 2002-12-11
exon 3c.194G>Ap.Gly65GluLikely pathogenicVALIDATED
 2002-11-18
exon 3c.214T>Cp.Cys72ArgPathogenicVALIDATED
 2002-10-31
exon 2c.145T>Cp.Tyr49HisLikely pathogenicVALIDATED
 2002-10-25
exon 3c.304T>Cp.Cys102ArgLikely pathogenicVALIDATED
 2002-09-21
exon 4c.421T>Ap.Phe141IlePathogenicVALIDATED
 2002-06-25
exon 4c.374G>Ap.Cys125TyrPathogenicVALIDATED
 2002-06-25
exon 3c.287T>Cp.Leu96ProLikely pathogenicVALIDATED
 2002-06-25
exon 3c.241T>Cp.Cys81ArgPathogenicVALIDATED
 2002-06-18
exon 3c.296G>Ap.Cys99TyrPathogenicVALIDATED
 2002-03-18
exon 3c.224C>Tp.Pro75LeuUncertain significance (VOUS)VALIDATED
 2002-03-18
exon 3c.295T>Cp.Cys99ArgPathogenicVALIDATED
 2002-02-12
exon 3c.200A>Gp.Tyr67CysLikely pathogenicVALIDATED
 2002-02-12
exon 2c.173G>Tp.Cys58PhePathogenicVALIDATED
 2002-02-12
exon 4c.362G>Ap.Arg121GlnUncertain significance (VOUS)VALIDATED
 2002-01-25
exon 2c.151C>Tp.His51TyrPathogenicVALIDATED
 2002-01-25
exon 4c.343T>Cp.Ser115ProLikely pathogenicVALIDATED
 2002-01-14
exon 2c.184T>Gp.Cys62GlyPathogenicVALIDATED
 2002-01-08
exon 2c.176G>Cp.Cys59SerPathogenicVALIDATED
 2002-01-03
exon 3c.251G>Cp.Cys84SerPathogenicVALIDATED
 2002-01-03
exon 4c.362G>Cp.Arg121ProLikely pathogenicVALIDATED
 2002-01-03
exon 2c.175T>Cp.Cys59ArgPathogenicVALIDATED
 2002-01-02
exon 2c.185G>Ap.Cys62TyrPathogenicVALIDATED
 2002-01-02
exon 3c.236C>Tp.Thr79MetPathogenicVALIDATED
 2002-01-02
exon 3c.242G>Tp.Cys81PhePathogenicVALIDATED
 2002-01-02
exon 4c.349T>Cp.Cys117ArgPathogenicVALIDATED
 2002-01-02
exon 4c.350G>Ap.Cys117TyrPathogenicVALIDATED
 2002-01-02