SLC29A3 (NM_018344.6) sequence variants
(ENT3, HJCD, PHID, HCLAP)

Editor(s): Guilaine BOURSIER   

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How to proceed? Hide Select the type and color of the items you want to display ☞ Choose the size of police and the shape of the columns displaying the variants ☞ Reduce or not the intron length, then Apply ☞ Click above ☟ on the gene region(s) to see the variants Drag and drop the different elements as you wish in the delimited zone Screenshot / Download and cite us!

Classification Color   Status Color   Alteration Color     Pathogenic   Validated     Deletion   Police size Small Medium Large   Sort on 1 2 3 4 5 columns Likely pathogenic   Provisional     Duplication   VUS   Unsolved     Insertion   Likely benign   To be validated     Substitution   Reduce introns over px Benign   All       Delins   Unsolved           All     Not classified               All     54 sequence variant(s) among 54

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1   2   3   4   5   6       SLC29A3 - NM_018344.6 2024-12-22 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR No variants Exon 1 X   M1? Intron 1X No variants Exon 2 X   V4D   S13*   S15Pfs*86   R18G   P41Lfs*60   E47Rfs*54   G61V   K81Nfs*20 Intron 2X   c.300+1G>C   c.300+1G>A   c.300+2T>G   c.301-2A>G Exon 3 X   L107Pfs*39   F103*   V109I   M116R Intron 3X   c.384-426_610+440del Exon 4 X   R134C   R134H   L139P   T180A   S184R   S203P Intron 4X   c.610+1G>C Exon 5 X   G209R   D225G   A230T   T236M   T236=   R258T Intron 5X   c.774-2A>G Exon 6 X   C311*   Y314Tfs*91   F316V   P324S   P324L   I326V   L349Sfs*56   R363W   R363Q   A367T   R386W   R386Q   P391H   D412N   L424Sfs*29   G427S   T431I   G437R   E444*   E447K   T449R 3' UTR X   c.*413G>A 3' flanking X No variants