TMEM173 (NM_198282.3) 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 : 11

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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 5c.439G>Cp.Val147LeuNot classifiedNot validated
 2014-11-04
exon 5c.439G>Ap.Val147MetNot classifiedNot validated
 2015-06-04
exon 5c.457T>Gp.Phe153ValNot classifiedNot validated
 2018-01-12
exon 5c.461A>Gp.Asn154SerNot classifiedNot validated
 2014-11-04
exon 5c.463G>Ap.Val155MetNot classifiedNot validated
 2014-11-04
exon 5c.497G>Ap.Gly166GluNot classifiedNot validated
 2018-03-15
exon 6c.617G>Ap.Cys206TyrNot classifiedNot validated
 2017-01-16
exon 7c.835T>Cp.Phe279LeuNot classifiedNot validated
 2018-03-15
exon 7c.842G>Ap.Arg281GlnNot classifiedNot validated
 2017-01-16
exon 7c.850A>Gp.Arg284GlyNot classifiedNot validated
 2017-01-16
exon 7c.852G>Tp.Arg284SerNot classifiedNot validated
 2018-08-02