TMEM173 (NM_198282.2) sequence variants
(ERIS, MITA, MPYS, SAVI, NET23, STING)

Editor(s): Adriana ALMEIDA DE JESUS   

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Total current number of sequence variants for TMEM173 : 12

*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
exon 8
c.1013delA
p.(Lys338Argfs*9)
K338Rfs*9
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7
c.852G>T
p.(Arg284Ser)
R284S
Not classifiedTo be validated
 2018-08-02
exon 7
c.835T>C
p.(Phe279Leu)
F279L
Not classifiedTo be validated
 2018-03-15
exon 5
c.497G>A
p.(Gly166Glu)
G166E
Not classifiedTo be validated
 2018-03-15
exon 5
c.457T>G
p.(Phe153Val)
F153V
Not classifiedTo be validated
 2018-01-12
exon 7
c.842G>A
p.(Arg281Gln)
R281Q
Not classifiedTo be validated
 2017-01-16
exon 7
c.850A>G
p.(Arg284Gly)
R284G
Not classifiedTo be validated
 2017-01-16
exon 6
c.617G>A
p.(Cys206Tyr)
C206Y
Not classifiedTo be validated
 2017-01-16
exon 5
c.439G>A
p.(Val147Met)
V147M
Not classifiedTo be validated
 2015-06-04
exon 5
c.439G>C
p.(Val147Leu)
V147L
Not classifiedTo be validated
 2014-11-04
exon 5
c.461A>G
p.(Asn154Ser)
N154S
Not classifiedTo be validated
 2014-11-04
exon 5
c.463G>A
p.(Val155Met)
V155M
Not classifiedTo be validated
 2014-11-04