Transcript #00001327

Transcript name solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Gene name SLC6A1 (solute carrier family 6 (neurotransmitter transporter, GABA), member 1)
Chromosome 3
Transcript - NCBI ID NM_003042.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003033.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

32 entries on 1 page. Showing entries 1 - 32.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.6G>A likely benign r.(?) p.(=)
+?/. - c.130C>T likely pathogenic r.(?) p.(Arg44Trp)
+/. - c.131G>A pathogenic r.(?) p.(Arg44Gln)
+/. - c.166T>C pathogenic r.(?) p.(Ser56Pro)
+?/. - c.205A>G likely pathogenic r.(?) p.(Arg69Gly)
+/. - c.283dup pathogenic r.(?) p.(Val95Glyfs*112)
+/. - c.336del pathogenic r.(?) p.(Leu113*)
+?/. - c.456C>A likely pathogenic r.(?) p.(Tyr152*)
-?/. - c.582G>A likely benign r.(?) p.(=)
+?/. - c.631C>T likely pathogenic r.(?) p.(Arg211Cys)
-?/. - c.651G>A likely benign r.(?) p.(=)
+/. - c.713_714del pathogenic r.(?) p.(Lys238Serfs*43)
./. - c.737A>G - r.(?) p.(Tyr246Cys)
./. - c.830G>A - r.(?) p.(Arg277His)
-?/. - c.846C>T likely benign r.(?) p.(=)
+?/. - c.863C>A likely pathogenic r.(?) p.(Ala288Glu)
-?/. - c.885A>T likely benign r.(?) p.(=)
+/. - c.889G>A pathogenic r.(?) p.(Gly297Arg)
+/. - c.889G>A pathogenic r.(?) p.(Gly297Arg)
+?/. - c.893T>C likely pathogenic r.(?) p.(Leu298Pro)
+/. - c.1070C>T pathogenic r.(?) p.(Ala357Val)
-?/. - c.1079-6G>A likely benign r.(=) p.(=)
+/. - c.1084G>A pathogenic r.(?) p.(Gly362Arg)
+?/. - c.1084G>A likely pathogenic r.(?) p.(Gly362Arg)
-?/. - c.1243C>A likely benign r.(?) p.(Leu415Ile)
?/. - c.1323+888_1323+889del - - p.(=)
./. - c.1427-4del - r.spl? p.?
?/. - c.1527G>A VUS r.(?) p.(=)
?/. - c.1528-7T>A VUS r.(=) p.(=)
+/. - c.1595G>A pathogenic r.(?) p.(Trp532*)
-?/. - c.1696-14C>G likely benign r.(=) p.(=)
?/. - c.1702C>T VUS r.(?) p.(Gln568*)
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