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

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

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