SLC29A3 (NM_018344.5) sequence variants

Editor(s): Isabelle TOUITOU   

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

Total current number of sequence variants for SLC29A3 : 4

*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
intron 2c.300+1G>Cp.Asn101Leufs*34
exon 6c.946T>Gp.Phe316Val
exon 6c.1088G>Ap.Arg363Gln
exon 6c.1269_1270delinsTp.Leu424Serfs*29