SLC29A3 (NM_018344.5) sequence variants

Editor(s): Isabelle TOUITOU   

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Total current number of sequence variants for SLC29A3 : 4

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
N101LfsX34intron 2c.300+1G>Cp.Asn101Leufs*34
F316Vexon 6c.946T>Gp.Phe316Val
R363Qexon 6c.1088G>Ap.Arg363Gln
c. 1269_1270delinsAexon 6c.1269_1270delinsTp.Leu424Serfs*29