SLC29A3 (NM_018344.5) sequence variants
(ENT3, HJCD, PHID, HCLAP)

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

*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
 2014-07-24
F316Vexon 6c.946T>Gp.Phe316Val
 2015-12-04
R363Qexon 6c.1088G>Ap.Arg363Gln
 2014-07-24
c. 1269_1270delinsAexon 6c.1269_1270delinsTp.Leu424Serfs*29
 2015-05-16