All transcript variants in gene SLC6A1

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

43 entries on 1 page. Showing entries 1 - 43.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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 r.(?) p.(Ala2=) - likely benign g.11058903G>A g.11017217G>A SLC6A1(NM_003042.3):c.6G>A (p.A2=) - SLC6A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.130C>T r.(?) p.(Arg44Trp) - likely pathogenic g.11059027C>T g.11017341C>T - - SLC6A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.131G>A r.(?) p.(Arg44Gln) - pathogenic g.11059028G>A g.11017342G>A - - SLC6A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.148_151delinsTCGTGTC r.(?) p.(Arg50_Phe51delinsSerCysLeu) - pathogenic g.11059045_11059048delinsTCGTGTC g.11017359_11017362delinsTCGTGTC - - SLC6A1_000039 - - - - Unknown - - - 0 - IMGAG
+/. - c.166T>C r.(?) p.(Ser56Pro) - pathogenic g.11059063T>C g.11017377T>C - - SLC6A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.205A>G r.(?) p.(Arg69Gly) - likely pathogenic g.11059102A>G g.11017416A>G SLC6A1(NM_003042.3):c.205A>G (p.(Arg69Gly)) - SLC6A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.283dup r.(?) p.(Val95GlyfsTer112) - pathogenic g.11059573dup g.11017887dup SLC6A1(NM_003042.3):c.283dupG (p.V95Gfs*112) - SLC6A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.314G>T r.(?) p.(Gly105Val) ACMG likely pathogenic g.11059604G>T g.11017918G>T - - SLC6A1_000035 ACMG: PM2,PM5,PP2,PP3 - - - Germline - - - 0 - Andreas Laner
+/. - c.336del r.(?) p.(Leu113Ter) - pathogenic g.11059626del g.11017940del SLC6A1(NM_003042.3):c.336delG (p.L113*) - SLC6A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.456C>A r.(?) p.(Tyr152Ter) - likely pathogenic g.11060369C>A g.11018683C>A - - SLC6A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.582G>A r.(?) p.(Glu194=) - likely benign g.11064022G>A g.11022336G>A SLC6A1(NM_003042.3):c.582G>A (p.E194=) - SLC6A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.631C>T r.(?) p.(Arg211Cys) - likely pathogenic g.11064071C>T g.11022385C>T - - SLC6A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.651G>A r.(?) p.(Thr217=) - likely benign g.11064091G>A g.11022405G>A SLC6A1(NM_003042.3):c.651G>A (p.T217=) - SLC6A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.713_714del r.(?) p.(Lys238SerfsTer43) - pathogenic g.11064153_11064154del g.11022467_11022468del SLC6A1(NM_003042.3):c.713_714delAG (p.K238Sfs*43) - SLC6A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
./. - c.737A>G r.(?) p.(Tyr246Cys) - VUS g.11067157A>G g.11025471A>G - - SLC6A1_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
-?/. - c.801C>T r.(?) p.(Gly267=) - likely benign g.11067221C>T - SLC6A1(NM_003042.3):c.801C>T (p.G267=) - SLC6A1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.830G>A r.(?) p.(Arg277His) - VUS 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 r.(?) p.(Ser282=) - likely benign g.11067266C>T g.11025580C>T SLC6A1(NM_003042.3):c.846C>T (p.S282=) - SLC6A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.850-1G>C r.spl? p.? - pathogenic g.11067458G>C g.11025772G>C SLC6A1(NM_003042.3):c.850-1G>C - SLC6A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.863C>A r.(?) p.(Ala288Glu) - likely pathogenic g.11067472C>A g.11025786C>A SLC6A1(NM_003042.3):c.863C>A (p.A288E) - SLC6A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.885A>T r.(?) p.(Ser295=) - likely benign g.11067494A>T g.11025808A>T SLC6A1(NM_003042.3):c.885A>T (p.S295=) - SLC6A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.889G>A r.(?) p.(Gly297Arg) - pathogenic g.11067498G>A g.11025812G>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 r.(?) p.(Gly297Arg) - pathogenic g.11067498G>A g.11025812G>A SLC6A1(NM_003042.3):c.889G>A (p.G297R) - SLC6A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.890G>A r.(?) p.(Gly297Glu) - likely pathogenic g.11067499G>A - - - chr3_006480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.893T>C r.(?) p.(Leu298Pro) - likely pathogenic g.11067502T>C g.11025816T>C - - SLC6A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.913G>T r.(?) p.(Ala305Ser) - VUS g.11067522G>T - SLC6A1(NM_003042.3):c.913G>T (p.(Ala305Ser)) - SLC6A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1070C>T r.(?) p.(Ala357Val) - pathogenic g.11068037C>T g.11026351C>T - - SLC6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1079-6G>A r.(=) p.(=) - likely benign g.11070415G>A g.11028729G>A SLC6A1(NM_003042.3):c.1079-6G>A - SLC6A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1084G>A r.(?) p.(Gly362Arg) - pathogenic g.11070426G>A g.11028740G>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 r.(?) p.(Gly362Arg) - likely pathogenic g.11070426G>A g.11028740G>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.1191+1G>T r.spl? p.? - pathogenic g.11070534G>T g.11028848G>T - - SLC6A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1191+18G>A r.(=) p.(=) - likely benign g.11070551G>A - SLC6A1(NM_003042.3):c.1191+18G>A - chr3_006481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1243C>A r.(?) p.(Leu415Ile) - likely benign g.11070958C>A g.11029272C>A SLC6A1(NM_003042.3):c.1243C>A (p.L415I) - SLC6A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1243C>A r.(?) p.(Leu415Ile) - likely benign g.11070958C>A - SLC6A1(NM_003042.3):c.1243C>A (p.L415I) - SLC6A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1323+888_1323+889del r.(=) p.(=) - VUS g.11071926_11071927del g.11030240_11030241del - - SLC6A1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1325G>T r.(?) p.(Gly442Val) - VUS g.11072864G>T - SLC6A1(NM_003042.3):c.1325G>T (p.G442V) - chr3_006482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.1427-4del r.spl? p.? - VUS g.11075321del g.11033635del - - SLC6A1_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
+?/. - c.1479C>A r.(?) p.(Cys493Ter) - likely pathogenic g.11075377C>A g.11033691C>A - - SLC6A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1527G>A r.(?) p.(Ala509=) - VUS g.11075425G>A g.11033739G>A - - SLC6A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1528-7T>A r.(=) p.(=) - VUS g.11076210T>A g.11034524T>A SLC6A1(NM_003042.3):c.1528-7T>A - SLC6A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1595G>A r.(?) p.(Trp532Ter) - pathogenic g.11076284G>A g.11034598G>A SLC6A1(NM_003042.3):c.1595G>A (p.W532*) - SLC6A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1696-14C>G r.(=) p.(=) - likely benign g.11078534C>G g.11036848C>G - - SLC6A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1702C>T r.(?) p.(Gln568Ter) - likely pathogenic g.11078554C>T g.11036868C>T - - SLC6A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend