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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 8c.1013delAp.(Lys338Argfs*9)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7c.852G>Tp.Arg284SerNot classifiedTo be validated
 2018-08-02
exon 7c.835T>Cp.Phe279LeuNot classifiedTo be validated
 2018-03-15
exon 5c.497G>Ap.Gly166GluNot classifiedTo be validated
 2018-03-15
exon 5c.457T>Gp.Phe153ValNot classifiedTo be validated
 2018-01-12
exon 7c.842G>Ap.Arg281GlnNot classifiedTo be validated
 2017-01-16
exon 7c.850A>Gp.Arg284GlyNot classifiedTo be validated
 2017-01-16
exon 6c.617G>Ap.Cys206TyrNot classifiedTo be validated
 2017-01-16
exon 5c.439G>Ap.Val147MetNot classifiedTo be validated
 2015-06-04
exon 5c.439G>Cp.Val147LeuNot classifiedTo be validated
 2014-11-04
exon 5c.461A>Gp.Asn154SerNot classifiedTo be validated
 2014-11-04
exon 5c.463G>Ap.Val155MetNot classifiedTo be validated
 2014-11-04