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

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