All transcript variants in gene SLC6A1

Information The variants shown are described using the NM_003042.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.6G>A likely benign r.(?) p.(=) g.11058903G>A - SLC6A1(NM_003042.3):c.6G>A (p.A2=) - SLC6A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.130C>T likely pathogenic r.(?) p.(Arg44Trp) g.11059027C>T - - - SLC6A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.131G>A pathogenic r.(?) p.(Arg44Gln) g.11059028G>A - - - SLC6A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.166T>C pathogenic r.(?) p.(Ser56Pro) g.11059063T>C - - - SLC6A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.205A>G likely pathogenic r.(?) p.(Arg69Gly) g.11059102A>G - SLC6A1(NM_003042.3):c.205A>G (p.(Arg69Gly)) - SLC6A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.283dup pathogenic r.(?) p.(Val95Glyfs*112) g.11059573dup - SLC6A1(NM_003042.3):c.283dupG (p.V95Gfs*112) - SLC6A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.336del pathogenic r.(?) p.(Leu113*) g.11059626del - SLC6A1(NM_003042.3):c.336delG (p.L113*) - SLC6A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.456C>A likely pathogenic r.(?) p.(Tyr152*) g.11060369C>A - - - SLC6A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.582G>A likely benign r.(?) p.(=) g.11064022G>A - SLC6A1(NM_003042.3):c.582G>A (p.E194=) - SLC6A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.631C>T likely pathogenic r.(?) p.(Arg211Cys) g.11064071C>T - - - SLC6A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.651G>A likely benign r.(?) p.(=) g.11064091G>A - SLC6A1(NM_003042.3):c.651G>A (p.T217=) - SLC6A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.713_714del pathogenic r.(?) p.(Lys238Serfs*43) g.11064153_11064154del - SLC6A1(NM_003042.3):c.713_714delAG (p.K238Sfs*43) - SLC6A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. - c.737A>G - r.(?) p.(Tyr246Cys) g.11067157A>G g.11025471A>G - - SLC6A1_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
./. - c.830G>A - r.(?) p.(Arg277His) g.11067250G>A g.11025564G>A - - SLC6A1_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - 0 - Dheeraj Bobbili
-?/. - c.846C>T likely benign r.(?) p.(=) g.11067266C>T - SLC6A1(NM_003042.3):c.846C>T (p.S282=) - SLC6A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.863C>A likely pathogenic r.(?) p.(Ala288Glu) g.11067472C>A - SLC6A1(NM_003042.3):c.863C>A (p.A288E) - SLC6A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.885A>T likely benign r.(?) p.(=) g.11067494A>T - SLC6A1(NM_003042.3):c.885A>T (p.S295=) - SLC6A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.889G>A pathogenic r.(?) p.(Gly297Arg) g.11067498G>A - SLC6A1(NM_003042.3):c.889G>A (p.G297R) - SLC6A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.889G>A pathogenic r.(?) p.(Gly297Arg) g.11067498G>A - SLC6A1(NM_003042.3):c.889G>A (p.G297R) - SLC6A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.893T>C likely pathogenic r.(?) p.(Leu298Pro) g.11067502T>C - - - SLC6A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1070C>T pathogenic r.(?) p.(Ala357Val) g.11068037C>T - - - SLC6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1079-6G>A likely benign r.(=) p.(=) g.11070415G>A - SLC6A1(NM_003042.3):c.1079-6G>A - SLC6A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1084G>A pathogenic r.(?) p.(Gly362Arg) g.11070426G>A - SLC6A1(NM_003042.3):c.1084G>A (p.(Gly362Arg), p.G362R) - SLC6A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1084G>A likely pathogenic r.(?) p.(Gly362Arg) g.11070426G>A - SLC6A1(NM_003042.3):c.1084G>A (p.(Gly362Arg), p.G362R) - SLC6A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1243C>A likely benign r.(?) p.(Leu415Ile) g.11070958C>A - SLC6A1(NM_003042.3):c.1243C>A (p.L415I) - SLC6A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1323+888_1323+889del - - p.(=) g.11071926_11071927del g.11030240_11030241del - - SLC6A1_000001 - - - - Germline - - - - - Yu Sun
./. - c.1427-4del - r.spl? p.? g.11075321del g.11033635del - - SLC6A1_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
?/. - c.1527G>A VUS r.(?) p.(=) g.11075425G>A - - - SLC6A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1528-7T>A VUS r.(=) p.(=) g.11076210T>A - SLC6A1(NM_003042.3):c.1528-7T>A - SLC6A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1595G>A pathogenic r.(?) p.(Trp532*) g.11076284G>A - SLC6A1(NM_003042.3):c.1595G>A (p.W532*) - SLC6A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1696-14C>G likely benign r.(=) p.(=) g.11078534C>G - - - SLC6A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1702C>T VUS r.(?) p.(Gln568*) g.11078554C>T - - - SLC6A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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