TMEM173 (NM_198282.3) sequence variants

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

*This classification is proposed by the INSAID study group. "A new workflow for classification of genetic variants pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic AutoInflammatory Diseases (INSAID)" by Marielle E. Van Gijn, Isabella Ceccherini, Yael Shinar Ellen C. Carbo, Mariska Slofstra, Juan I. Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyinmi, Banu Peynircioglu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou. JMG In press

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
exon 5c.439G>Cp.Val147Leu
exon 5c.439G>Ap.Val147Met
exon 5c.457T>Gp.Phe153Val
exon 5c.461A>Gp.Asn154Ser
exon 5c.463G>Ap.Val155Met
exon 5c.497G>Ap.Gly166Glu
exon 6c.617G>Ap.Cys206Tyr
exon 7c.835T>Cp.Phe279Leu
exon 7c.842G>Ap.Arg281Gln
exon 7c.850A>Gp.Arg284Gly