Transcript #00019257

Transcript name transcript variant 1
Gene name SLC29A3 (solute carrier family 29 (nucleoside transporters), member 3)
Chromosome 10
Transcript - NCBI ID NM_018344.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_060814.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.74G>A likely benign r.(?) p.(Arg25Gln)
-?/. - c.128T>G likely benign r.(?) p.(Leu43Arg)
-?/. - c.269C>T likely benign r.(?) p.(Thr90Ile)
+/? 2i c.300+1G>A - r.spl p.?
+/+ 3 c.307delTT - r.(?) p.Phe103X
+/+? 3 c.347T>G - r.(?) p.Met116Arg
-/. - c.383+8A>G benign r.(=) p.(=)
-?/. - c.384-9T>C likely benign r.(=) p.(=)
+?/+? 4 c.400C>T - r.(?) p.Arg134Cys
-?/. - c.462G>A likely benign r.(?) p.(=)
-/. - c.473C>T benign r.(?) p.(Ser158Phe)
-?/. - c.497C>T likely benign r.(?) p.(Ala166Val)
?/. - c.583A>G VUS r.(?) p.(Met195Val)
-/. - c.597G>A benign r.(?) p.(=)
+/? 4 c.607T>C - r.(?) p.Ser203Pro
-?/. - c.618C>T likely benign r.(?) p.(=)
-/. - c.618C>T benign r.(?) p.(=)
-/. - c.714T>C benign r.(?) p.(=)
-/. - c.715G>A benign r.(?) p.(Val239Ile)
-?/. - c.831C>T likely benign r.(?) p.(=)
-/. - c.842T>C benign r.(?) p.(Leu281Pro)
-?/. - c.842T>C likely benign r.(?) p.(Leu281Pro)
+/+ 6 c.940delT - r.(?) p.Tyr314ThrfsX91
-?/. - c.946T>G likely benign r.(?) p.(Phe316Val)
-/. - c.976A>G benign r.(?) p.(Ile326Val)
-/. - c.976A>G benign r.(?) p.(Ile326Val)
-?/. - c.1001A>G likely benign r.(?) p.(Asn334Ser)
-?/. - c.1001A>G likely benign r.(?) p.(Asn334Ser)
-/. - c.1008T>C benign r.(?) p.(=)
+/? 6 c.1045delC - r.(?) p.Leu349SerfsX56
+?/+? 6 c.1087C>T - r.(?) p.Arg363Trp
+?/+? 6 c.1088G>A - r.(?) p.Arg363Gln
-?/. - c.1146C>T likely benign r.(?) p.(=)
-?/. - c.1146C>T likely benign r.(?) p.(=)
+/? 6 c.1157G>A - r.(?) p.Arg386Gln
?/. - c.1235A>G VUS r.(?) p.(Asp412Gly)
+?/? 6 c.1279G>A - r.(?) p.Gly427Ser
+?/+? 6 c.1309G>A - r.(?) p.Gly437Arg
+/+? 6 c.1309G>A - r.(?) p.Gly437Arg
+?/+? 6 c.1309G>A - r.(?) p.Gly437Arg
+?/+? 6 c.1309G>A - r.(?) p.Gly437Arg
+?/+? 6 c.1309G>A - r.(?) p.Gly437Arg
+/+ 6 c.1330G>T - r.(?) p.Glu444X
+/+? 6 c.1346C>G - r.(?) p.Thr449Arg
?/? 6 c.1346C>G - r.(?) p.Thr449Arg
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