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 : 10

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
exon 5c.439G>Cp.Val147Leu
 2014-11-04
exon 5c.439G>Ap.Val147Met
 2015-06-04
exon 5c.457T>Gp.Phe153Val
 2018-01-12
exon 5c.461A>Gp.Asn154Ser
 2014-11-04
exon 5c.463G>Ap.Val155Met
 2014-11-04
exon 5c.497G>Ap.Gly166Glu
 2018-03-15
exon 6c.617G>Ap.Cys206Tyr
 2017-01-16
exon 7c.835T>Cp.Phe279Leu
 2018-03-15
exon 7c.842G>Ap.Arg281Gln
 2017-01-16
exon 7c.850A>Gp.Arg284Gly
 2017-01-16