TNFAIP3 (NM_006290.3) sequence variants
(A20, AISBL, OTUD7C, TNFA1P2)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFAIP3 : 20

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. 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
exon 2c.65G>Ap.Arg22GlnUncertain significance (VOUS)VALIDATED
 2018-03-05
exon 2c.133C>Tp.Arg45*PathogenicVALIDATED
 2018-03-23
exon 2c.252delCp.Trp85Glyfs*11PathogenicVALIDATED
 2017-04-28
exon 4c.598delp.Cys200Alafs*16Not classifiedNot validated
 2018-12-13
exon 5c.671delTp.Phe224Serfs*4PathogenicVALIDATED
 2017-04-28
exon 5c.680T>Ap.Leu227*PathogenicVALIDATED
 2017-04-28
exon 5c.728G>Ap.Cys243TyrPathogenicVALIDATED
 2017-04-28
exon 5c.801delp.Pro268Leufs*19PathogenicVALIDATED
 2017-04-28
exon 6c.811C>Tp.Arg271*PathogenicVALIDATED
 2017-04-28
exon 6c.918C>Gp.Tyr306*PathogenicVALIDATED
 2017-04-28
exon 7c.1012G>Tp.Glu338*Likely pathogenicVALIDATED
 2018-03-22
exon 7c.1108delCp.Gln370Argfs*16Likely pathogenicVALIDATED
 2018-03-22
exon 7c.1249_1252del p.Lys417Serfs*4PathogenicVALIDATED
 2017-04-28
exon 7c.1345delAp.Asn449Thrfs*28PathogenicVALIDATED
 2018-03-23
exon 7c.1466_1467delTGp.Val489Alafs*7PathogenicVALIDATED
 2018-03-22
exon 7c.1760_1770del11p.Ala588Valfs*80PathogenicVALIDATED
 2018-03-23
exon 7c.1809delGp.Thr604Argfs*93PathogenicVALIDATED
 2017-04-28
intron 7c.1906+1G>Ap.?PathogenicVALIDATED
 2018-03-23
intron 8c.2088+5G>Cp.?PathogenicVALIDATED
 2018-03-23
exon 9c.2209delCp.Gln737Serfs*79PathogenicVALIDATED
 2018-03-23