TRNT1 (NM_182916.2) sequence variants
(CCA1, RPEM, SIFD, MtCCA, CGI-47)

Editor(s): Guilaine BOURSIER   

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Total current number of sequence variants for TRNT1 : 23

* 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 7c.1054_1056+10delp.?PathogenicNot validated
 2019-01-21
exon 2c.128_130delp.(Glu43del)Likely pathogenicNot validated
 2019-01-22
exon 3c.295C>Tp.(Arg99Trp)Likely pathogenicNot validated
 2019-01-22
intron 3c.342+5G>Tp.?Likely pathogenicNot validated
 2019-01-22
exon 4c.383A>Gp.(Asp128Gly)Likely pathogenicNot validated
 2019-01-22
exon 4c.443C>Tp.(Ala148Val)Likely pathogenicNot validated
 2019-01-22
exon 4c.448C>Tp.(Arg150Cys)Likely pathogenicNot validated
 2019-01-21
exon 3c.461C>Tp.(Thr154Ile)Uncertain significance (VOUS)Not validated
 2019-01-21
exon 4c.464T>Cp.(Ile155Thr)Likely pathogenicNot validated
 2019-01-22
exon 3c.472A>Gp.(Met158Val)PathogenicNot validated
 2019-01-21
exon 3c.497T>Cp.(Leu166Ser)PathogenicNot validated
 2019-01-21
exon 5c.518A>Tp.(Tyr173Phe)Likely pathogenicNot validated
 2019-01-22
exon 5c.569G>Tp.(Arg190Ile)PathogenicNot validated
 2019-01-21
exon 5c.608G>Ap.(Arg203Lys)Likely pathogenicNot validated
 2019-01-22
intron 5c.608+1G>Tp.?PathogenicNot validated
 2019-01-21
exon 6c.668T>Cp.(Ile223Thr)PathogenicNot validated
 2019-01-21
exon 3c.977T>Cp.(Ile326Thr)Uncertain significance (VOUS)Not validated
 2019-01-21
intron 7c.1057-7C>Gp.?Likely pathogenicNot validated
 2019-01-21
exon 8c.1142_1143insATGTp.(Trp381*)PathogenicNot validated
 2019-01-21
exon 8c.1213G>Ap.(Gly405Arg)Likely pathogenicNot validated
 2019-01-22
exon 8c.1246A>Gp.(Lys416Glu)Uncertain significance (VOUS)Not validated
 2019-01-21
exon 8c.1252dupp.(Ser418Lysfs*9)PathogenicNot validated
 2019-01-21
exon 8c.1252delp.(Ser418Valfs*11)Likely pathogenicNot validated
 2019-01-22