Transcript #00000286

Transcript name solute carrier family 17 (anion/sugar transporter), member 5
Gene name SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 5)
Chromosome 6
Transcript - NCBI ID NM_012434.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_036566.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-2451640_*595735del - r.0? p.0?
+/+ 1i c.95-1G>C - r.95_291del p.Ala32Glyfs*2
+/. - c.115C>T pathogenic r.(?) p.(Arg39Cys)
+/+ 2 c.115C>T - r.115c>t p.Arg39Cys
+/. - c.115C>T pathogenic r.(?) p.(Arg39Cys)
+?/. - c.116G>A ACMG 4 r.(?) p.(Arg39His)
-/. - c.246G>A benign r.(=) p.(=)
+/+ 2 c.291G>A - r.95_291del p.Ala32Glyfs*2
+/+ 2i_4i c.292_613del - r.292_613del p.(Gly98Glufs*7)
+/+ 3 c.309G>A - r.309g>a p.Trp103*
+/+ 3 c.406A>G - r.406a>g p.Lys136Glu
?/. - c.481G>A VUS - -
+?/+? 3 c.500T>C - r.(?) p.(Leu167Pro)
+/. - c.507del pathogenic r.(?) p.(Leu170*)
+/+ 3 c.507delA - r.507dela p.(Leu170*)
+/+ 3i_6i c.526_819del - r.526_819del p.Gly176_Gln273del
+/. - c.533del pathogenic r.(?) p.(Thr178Asnfs*34)
-/. - c.606A>G benign r.(=) p.(=)
+/. - c.719G>A pathogenic r.(?) p.(Trp240*)
+/+ 6 c.719G>A - r.719g>a p.Trp240*
+/. - c.802_816del pathogenic r.(?) p.(Ser268_Asn272del)
+/+ 6 c.802_816del - r.802_816del p.Ser268_Asn272del
-?/. - c.820-3C>T likely benign r.spl? p.?
+?/+? 8 c.918T>G - r.(?) p.(Tyr306*)
+?/+? 8 c.983G>A - r.983g>a p.Gly328Glu
+/. - c.991_992insA pathogenic r.(?) p.(Ser331Tyrfs*20)
+/+ 8 c.1007_1008delTA - r.1007_1008delta p.Leu336Trpfs*14
+/. - c.1111+1G>A pathogenic r.spl? p.?
-/. - c.1111+7G>A benign r.(=) p.(=)
+/+ 9 c.1138_1139delGT - r.1138_1139delgt p.Val380Serfs*8
+?/+? 9 c.1226G>A - r.1226g>a p.Gly409Glu
-?/. - c.1324G>A likely benign r.(?) p.(Val442Ile)
-/. - c.1351-23G>A benign r.(=) p.(=)
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