TMEM173 (NM_198282.3) sequence variants
(ERIS, MITA, MPYS, SAVI, NET23, STING)

Editor(s): Adriana ALMEIDA DE JESUS   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for TMEM173 : 7

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

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
V147Lexon 5c.439G>Cp.Val147Leu
 2014-11-04
V147Mexon 5c.439G>Ap.Val147Met
 2015-06-04
N154Sexon 5c.461A>Gp.Asn154Ser
 2014-11-04
V155Mexon 5c.463G>Ap.Val155Met
 2014-11-04
C206Yexon 6c.617G>Ap.Cys206Tyr
 2017-01-16
R281Qexon 7c.842G>Ap.Arg281Gln
 2017-01-16
R284Gexon 7c.850A>Gp.Arg284Gly
 2017-01-16