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

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
c.1054_1056+10del
intron 7
c.1054_1056+10del
p.?PathogenicTo be validated
 2019-01-21
c.126_128delAGA
exon 2
c.128_130del
p.(Glu43del)Likely pathogenicTo be validated
 2019-01-22
R99W
exon 3
c.295C>T
p.(Arg99Trp)Likely pathogenicTo be validated
 2019-01-22
c.342+5G>T
intron 3
c.342+5G>T
p.?Likely pathogenicTo be validated
 2019-01-22
D128G
exon 4
c.383A>G
p.(Asp128Gly)Likely pathogenicTo be validated
 2019-01-22
A148V
exon 4
c.443C>T
p.(Ala148Val)Likely pathogenicTo be validated
 2019-01-22
R150C
exon 4
c.448C>T
p.(Arg150Cys)Likely pathogenicTo be validated
 2019-01-21
T154L
exon 3
c.461C>T
p.(Thr154Ile)Uncertain significance (VOUS)To be validated
 2019-01-21
I155T
exon 4
c.464T>C
p.(Ile155Thr)Likely pathogenicTo be validated
 2019-01-22
M158V
exon 3
c.472A>G
p.(Met158Val)PathogenicTo be validated
 2019-01-21
L166S
exon 3
c.497T>C
p.(Leu166Ser)PathogenicTo be validated
 2019-01-21
Y173F
exon 5
c.518A>T
p.(Tyr173Phe)Likely pathogenicTo be validated
 2019-01-22
R190I
exon 5
c.569G>T
p.(Arg190Ile)PathogenicTo be validated
 2019-01-21
R203K
exon 5
c.608G>A
p.(Arg203Lys)Likely pathogenicTo be validated
 2019-01-22
c.608+1G>T
intron 5
c.608+1G>T
p.?PathogenicTo be validated
 2019-01-21
I223T
exon 6
c.668T>C
p.(Ile223Thr)PathogenicTo be validated
 2019-01-21
I326T
exon 3
c.977T>C
p.(Ile326Thr)Uncertain significance (VOUS)To be validated
 2019-01-21
c.1057-7C>G
intron 7
c.1057-7C>G
p.?Likely pathogenicTo be validated
 2019-01-21
W381*
exon 8
c.1142_1143insATGT
p.(Trp381*)PathogenicTo be validated
 2019-01-21
G405R
exon 8
c.1213G>A
p.(Gly405Arg)Likely pathogenicTo be validated
 2019-01-22
K416E
exon 8
c.1246A>G
p.(Lys416Glu)Uncertain significance (VOUS)To be validated
 2019-01-21
S418fs
exon 8
c.1252dup
p.(Ser418Lysfs*9)PathogenicTo be validated
 2019-01-21
c.1246del
exon 8
c.1252del
p.(Ser418Valfs*11)Likely pathogenicTo be validated
 2019-01-22