Unique variants in the TPMT gene

Information The variants shown are described using the NM_000367.2 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/., ?/. 2 _1 c.-235_-149= TPMT*V6 r.(=) p.(=) - likely benign, VUS g.18155368_18155454= g.18155137_18155223= 6 repeat units, 6 repeat units, c.[-235_-218[2];-199_-183[3]] - TPMT_000000 larger repeats have small negative effect on promoter activity, 1 more item PubMed: Spire-Vayron de la Moureyre 1999, PubMed: Yan 2000 - - Germline - 0.08, 25/558 chromosomes - - - Johan den Dunnen
+?/., ?/. 2 _1 c.? TPMT*V3, TPMT*V9 r.(=) p.(=) - likely benign (!), VUS g.18155368_18155454? - 3 repeat units, 9 repeat units - TPMT_000000 larger repeats have small negative effect on promoter activity PubMed: Yan 2000 - - Germline - 1/558 chromosomes, 2/558 chromosomes - - - Johan den Dunnen
+?/., -?/. 2 _1 c.[-235_-218[5];-181_-149del] TPMT*V7 r.(=) p.(=) - likely benign, likely benign (!) g.[18155437_18155452[5];18155368_18155384del] - 7 repeat units, 7 repeat units, c.[-235_-218[5];-199_-183[1]] - TPMT_000004 larger repeats have small negative effect on promoter activity, unit structure 5-1-1, 305 bp fragment PubMed: Spire-Vayron de la Moureyre 1999, PubMed: Yan 2000 - - Germline - 0.04, 25/558 chromosomes - - - Johan den Dunnen
+?/., -?/. 2 _1 c.[-235_-218[6];-181_-149del] TPMT*V8 r.(=) p.(=) - likely benign, likely benign (!) g.[18155437_18155452[6];18155368_18155384del] - 8 repeat units, 8 repeat units, c.[-235_-218[6];-199_-183[1]] - TPMT_000005 larger repeats have small negative effect on promoter activity, unit structure 6-1-1, 323 bp fragment PubMed: Spire-Vayron de la Moureyre 1999, PubMed: Yan 2000 - - Germline - 0.02, 1/558 chromosomes - - - Johan den Dunnen
-?/. 2 _1 c.-182_-149del TPMT*V4 r.(=) p.(=) - likely benign g.18155385_18155418del g.18155154_18155187del 4 repeat units, 4 repeat units, c.[-235_-218[2];-199_-183[1]] - TPMT_000002 unit structure 2-1-1, 251 bp fragment PubMed: Spire-Vayron de la Moureyre 1999, PubMed: Yan 2000 - - Germline - 0.44, 303/558 chromosomes - - - Johan den Dunnen
-?/., ?/. 3 _1 c.-178C>T TPMT*1A r.(=) p.(=) - likely benign, VUS g.18155397G>A g.18155166G>A - - TPMT_000012 reference haplotype TPMT*1A PubMed: Colombel 2000, PubMed: de la Moureyre 1998 - - Germline - 1/41 individuals - - - Johan den Dunnen
-/., -?/. 3 _1 c.-165_-149del TPMT*V5 r.(=), r.(?) p.(=) - benign, likely benign g.18155368_18155384del g.18155137_18155153del 5 repeat units, 5 repeat units, c.[-235_-218[2];-199_-183[2]] - TPMT_000003 2 more items PubMed: Skrzypczak-Zielinska 2013, PubMed: Spire-Vayron de la Moureyre 1999, PubMed: Yan 2000 - - Germline - 0,43, 201/558 chromosomes, 292/548 - - - Johan den Dunnen
-?/. 1 1i c.-44-124G>A - r.(=) p.(=) - likely benign g.18149526C>T g.18149295C>T rs3930696 - TPMT_000006 - PubMed: Roberts 2014 - rs3930696 Unknown - - - - - Johan den Dunnen
?/. 1 1 c.-30T>A - r.(?) p.(=) - VUS g.18149388A>T g.18149157A>T - - TPMT_000013 - PubMed: Otterness 1997 - - Germline - 1/21 samples - - - Johan den Dunnen
+/. 3 2 c.1A>G TPMT*14 r.(?) p.0? - benign (!), NA g.18149358T>C g.18149127T>C Met1Val - TPMT_000140 expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation, 1 more item PubMed: Lindqvist 2004, PubMed: Ujiie 2008 - rs9333569 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., ?/. 2 1, 2 c.2T>C TPMT*29 r.(?), r.2u>c p.0? - benign (!), VUS g.18149357A>G g.18149126A>G Met1Thr - TPMT_000290 reference haplotype TPMT*29 PubMed: Lee 2012 - rs267607275 Germline, Unknown - - - - - Johan den Dunnen
-?/. 1 2 c.30T>A - r.(?) p.(=) - likely benign g.18149329A>T g.18149098A>T Ile10Ile - TPMT_000286 - PubMed: Skrzypczak-Zielinska 2013 - rs200780293 Unknown - 1/548 - - - Johan den Dunnen
+/., +?/. 3 2 c.83A>T TPMT*13 r.(?) p.(Glu28Val), p.Glu28Val - benign (!), NA g.18149276T>A g.18149045T>A - - TPMT_000130 57% TPMT clearance, expression cloning COS7-cells, reduced activity in 6-TG S-methylation, 1 more item PubMed: Hamdan-Khalil 2003, PubMed: Ujiie 2008 - rs72552742 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.95dup TPMT*42 r.(?) p.(Trp33Valfs*26) - benign (!) g.18149264dup g.18149033dup 95_96insA - TPMT_000378 reference haplotype TPMT*42 - - rs759836180 Germline - - - - - Johan den Dunnen
+/., ?/. 3 2 c.106G>A TPMT*30 r.(?) p.(Gly36Ser), p.Gly36Ser - NA, VUS g.18149253C>T g.18149022C>T - - TPMT_000300 expression cloning COS7-cells, reduced activity in 6-TG S-methylation; haplotype reported as TPMT*24, 1 more item PubMed: Sasaki 2006, PubMed: Ujiie 2008 - - Germline, In vitro (cloned) - 1/192 ind. - - - Johan den Dunnen
+/. 3 2 c.124C>G TPMT*17 r.(?) p.(Gln42Glu), p.Gln42Glu - benign (!), NA g.18149235G>C g.18149004G>C - - TPMT_000170 expression cloning COS7-cells, reduced activity in 6-TG S-methylation, reference haplotype TPMT*17 PubMed: Schaeffeler 2004, PubMed: Ujiie 2008 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., ?/. 2 2i c.140+114T>A TPMT*3E r.(=), r.(?) p.(=) - benign (!), VUS g.18149105A>T g.18148874A>T - - TPMT_000033 reference haplotype TPMT*3E PubMed: Otterness 1997 - rs3931660 Germline - - - - - Johan den Dunnen
-?/., ?/. 3 2i c.141-101A>T TPMT*3E r.(=) p.(=) - likely benign, VUS g.18148247T>A g.18148016T>A rs12529220 - TPMT_000034 reference haplotype TPMT*3E PubMed: Roberts 2014 - rs12529220 Germline, Unknown - - - - - Johan den Dunnen
+/. 4 3 c.146T>C TPMT*5 r.(?) p.(Leu49Ser), p.Leu49Ser - benign (!), NA g.18148141A>G g.18147910A>G - - TPMT_000050 expression cloning COS7-cells, reduced activity in 6-TG S-methylation, reference haplotype TPMT*5 PubMed: Otterness 1997, PubMed: Salavaggione 2005, PubMed: Ujiie 2008 - rs72552740 Germline, In vitro (cloned) - 1/29 samples - - - Johan den Dunnen
+?/., ?/. 2 3 c.200T>C TPMT*35 r.(?) p.(Phe67Ser) - likely benign (!), VUS g.18148087A>G g.18147856A>G - - TPMT_000350 published as TPMT*30, reference haplotype TPMT*35 PubMed: Skrzypczak-Zielinska 2013 - - Germline, Unknown - 1/548 chromosomes - - - Johan den Dunnen
+/., +?/. 6 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val), p.Leu69Val - benign (!), likely benign (!), NA g.18148082G>C g.18147851G>C - - TPMT_000210 expression cloning COS7-cells, no activity in 6-TG S-methylation, not in 200 control chromosomes, 3 more items PubMed: Garat 2008, PubMed: Lennard 2013, PubMed: Schaeffeler 2006, PubMed: Ujiie 2008 - rs200591577 Germline, In vitro (cloned) - 1/1137 individuals - - - Johan den Dunnen
+/. 4 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg), p.Gly71Arg - benign (!), NA g.18148076C>T g.18147845C>T - - TPMT_000180 expression cloning COS7-cells, slightly reuced protein expression, no activity in 6-TG S-methylation, 1 more item PubMed: Schaeffeler 2004, PubMed: Ujiie 2008 - - Germline, In vitro (cloned) - 2/1214 ind. - - - Johan den Dunnen
+/. 1 - c.218C>T TPMT*39 r.(?) p.(Ala73Val) - benign (!) g.18148069G>A g.18147838G>A - - TPMT_000375 reference haplotype TPMT*39 - - rs281874771 Germline - - - - - Johan den Dunnen
-?/. 1 3 c.219G>A - r.(?) p.(=) - likely benign g.18148068C>T g.18147837C>T Ala73Ala - TPMT_000009 - PubMed: Skrzypczak-Zielinska 2013 - - Unknown - 1/548 - - - Johan den Dunnen
+?/., -/., ?/. 5 3i c.233+35C>T - r.(=), r.(?) p.(=) - benign, likely benign (!), VUS g.18148019G>A g.18147788G>A IVS4+35T>C, rs4449636 - TPMT_000016 - PubMed: Otterness 1997, PubMed: Roberts 2014, PubMed: Sasaki 2006 - rs4449636 Germline, Unknown - 36/197 ind., 94/197 ind. - - - Johan den Dunnen
?/. 1 3i c.233+96G>T - r.(?) p.(=) - VUS g.18147958C>A g.18147727C>A - - TPMT_000017 - PubMed: Otterness 1997 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.234G>T TPMT*43 r.(?) p.(Trp78Cys) - benign (!) g.18143959C>A g.18143728C>A - - TPMT_000380 reference haplotype TPMT*43 - ClinVar-SCV000778514 - Germline - - - - - Johan den Dunnen
+/+, +/., ?/. 22 4 c.238G>C TPMT*1/*2, TPMT*2 r.(238g>c), r.(?), r.238g>c p.(Ala80Pro), p.Ala80Pro - benign (!), NA, VUS g.18143955C>G g.18143724C>G TPMT(NM_000367.4):c.238G>C (p.A80P), TPMT*1/*2, TPMT*2 - TPMT_000020 100x reduced TPMT catalytic activity, haplotype TPMT*1/*2, haplotype TPMT*2/*3A, 5 more items IP3 project, submitted, PubMed: Ameyaw 1999, OMIM:var0001, PubMed: Collie-Duguid 1999, 11 more items - rs1800462 CLASSIFICATION record, Germline, In vitro (cloned) - 0.002, 1/1137 individuals, 1/21 cases, 1/29 samples, 1/6 cases, 2/199 controls, 2/248 controls, 2 more items CviRI- - - Johan den Dunnen, VKGL-NL_Rotterdam, Jesse Swen
+/., +?/. 2 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp) - benign (!), likely benign (!) g.18143949G>A g.18143718G>A - - TPMT_000340 reference haplotype TPMT*34, 1 more item PubMed: Lennard 2013 - rs111901354 Germline - 1/1137 individuals - - - Johan den Dunnen
+/. 1 - c.262G>A TPMT*43 r.(?) p.(Gly88Ser) - benign (!) g.18143931C>T g.18143700C>T - - TPMT_000381 reference haplotype TPMT*43 - ClinVar-SCV000778515 rs753545734 Germline - - - - - Johan den Dunnen
+/. 1 4 c.291del - r.(?) p.(Glu98AsnfsTer51) - benign (!) g.18143903del g.18143672del - - TPMT_000296 TPMT*? PubMed: Torres 2010 - - Germline - - - - - Johan den Dunnen
+/., -?/. 2 4 c.292G>T TPMT*3D r.(?) p.(Glu98*) - benign (!), likely benign g.18143901C>A g.18143670C>A - - TPMT_000032 reference haplotype TPMT*3D PubMed: Otterness 1997 - rs72552739 Germline - 1/29 samples - - - Johan den Dunnen
+/. 2 4 c.319T>G TPMT*27 r.(?) p.(Tyr107Asp) - benign (!) g.18143874A>C g.18143643A>C - - TPMT_000270 reference haplotype TPMT*27 PubMed: Feng 2010 - - Germline - - - - - Johan den Dunnen
-?/. 2 4 c.339C>T - r.(?) p.(=) - likely benign g.18143854G>A g.18143623G>A - - TPMT_000019 - PubMed: Otterness 1997 - - Germline - 1/25 samples, 1/30 samples - - - Johan den Dunnen
+/., +?/. 2 4 c.340G>A TPMT*32 r.(?) p.(Glu114Lys) - benign (!), likely benign (!) g.18143853C>T g.18143622C>T - - TPMT_000320 reference haplotype TPMT*32, 1 more item PubMed: Lennard 2013 - rs115106679 Germline - 1/1137 individuals - - - Johan den Dunnen
+/. 2 4 c.349G>C TPMT*28 r.(?) p.(Gly117Arg) - benign (!) g.18143844C>G g.18143613C>G 349G>A - TPMT_000280 reference haplotype TPMT*28, suggested residual TPMT activity PubMed: Landy 2010 - - Germline - - - - - Johan den Dunnen
+/., -?/., ?/. 4 4 c.356A>C TPMT*9 r.(?) p.(Lys119Thr), p.Lys119Thr - benign (!), NA, VUS g.18143837T>G g.18143606T>G - - TPMT_000090 no effect on TPMT clearance, not in 200 control chromosomes, reference haplotype TPMT*9, 1 more item PubMed: Garat 2008, PubMed: Lennard 2013 - rs151149760 Germline, In vitro (cloned) - 1/1137 individuals - - - Johan den Dunnen
-?/. 2 4 c.365A>C TPMT*19 r.(?) p.(Lys122Thr) - likely benign g.18143828T>G g.18143597T>G - - TPMT_000190 reference haplotype TPMT*19, unreduced TPMT clearance PubMed: Hamdan-Khalil 2005 - - Germline - - - - - Johan den Dunnen
-/., -?/., ?/. 4 4i c.366+58T>C TPMT*3E r.(=), r.(?) p.(=) - benign, likely benign, VUS g.18143769A>G g.18143538A>G IVS5+58C>T, rs2518463 - TPMT_000035 reference haplotype TPMT*3E PubMed: Otterness 1997, PubMed: Roberts 2014, PubMed: Skrzypczak-Zielinska 2013 - rs2518463 Germline, Unknown - 201/548 - - - Johan den Dunnen
+/. 3 5 c.374C>T TPMT*12 r.(?) p.(Ser125Leu), p.Ser125Leu - benign (!), NA g.18139941G>A g.18139710G>A - - TPMT_000120 30% TPMT clearance, reference haplotype TPMT*12, 1 more item PubMed: Hamdan-Khalil 2003, PubMed: Ujiie 2008 - rs200220210 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., +?/. 3 5 c.395G>A TPMT*11 r.(?), r.395g>a p.Cys132Tyr - benign (!), NA g.18139920C>T g.18139689C>T - - TPMT_000110 expression cloning COS7-cells, reduced activity in 6-TG S-methylation, reference haplotype TPMT*11 PubMed: Schaeffeler 2003, PubMed: Ujiie 2008 - rs72552738 Germline, In vitro (cloned) - - - - - Johan den Dunnen
-?/. 1 4 c.399C>T - r.(?) p.(=) - likely benign g.18139916G>A g.18139685G>A Cys133Cys - TPMT_000007 - PubMed: Skrzypczak-Zielinska 2013 - - Unknown - 2/548 - - - Johan den Dunnen
+/., ?/. 4 6 c.430G>C TPMT*10 r.(?) p.(Gly144Arg), p.Gly144Arg - benign (!), NA g.18139258C>G g.18139027C>G - - TPMT_000100 30% TPMT clearance, expression cloning COS7-cells, reduced activity in 6-TG S-methylation, 1 more item PubMed: Colombel 2000, PubMed: Hamdan-Khalil 2003, PubMed: Salavaggione 2005, PubMed: Ujiie 2008 - rs72552737, rs72552738 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/+, +/., -?/. 84 6 c.460G>A TPMT*1/*3A, TPMT*3A, TPMT*3A/*3A, TPMT*3B, TPMT*3D, TPMT*3E r.(460g>a), r.(?), r.460g>a p.(Ala154Thr), p.Ala154Thr - benign (!), likely benign, NA, pathogenic g.18139228C>T g.18138997C>T TPMT(NM_000367.4):c.460G>A (p.A154T), TPMT*3A, TPMT*3A/*3A - TPMT_000030 33 heterozygous, no homozygous; Clinindb (India), 9x reduced TPMT catalytic activity, instable at 37oC, 14 more items IP3 project, submitted, PubMed: Ameyaw 1999, OMIM:var0002, PubMed: Collie-Duguid 1999, OMIM:var0002, 22 more items - rs1800460 CLASSIFICATION record, Germline, In vitro (cloned) - 0.045, 1/1137 individuals, 1/199 controls, 1/248 controls, 1/283 samples, 1/29 samples, 1/6 cases, 15 more items MwoI- - - Johan den Dunnen, VKGL-NL_VUmc, Jesse Swen, Mohammed Faruq
-?/. 1 6 c.474C= - r.(?) p.(Ile158=) - likely benign g.18139214G>A g.18138983G>A rs2842934 - TPMT_000011 1 more item PubMed: Roberts 2014 - rs2842934 Unknown - - - - - Johan den Dunnen
-/-, -/., -?/. 17 6 c.474C>T TPMT*1S, TPMT*3E r.(?) p.(=), p.(Ile158=) - benign, likely benign g.18139214G>A g.18138983G>A 474T>C, Ile158Ile, TPMT(NM_000367.4):c.474C>T (p.I158=) - TPMT_000011 11 individuals (1 homozygous), determined in 21 samples, determined in 25 samples, 4 more items PubMed: Colombel 2000, PubMed: de Beaumais 2009, PubMed: de la Moureyre 1998, PubMed: Otterness 1997, 3 more items - rs2842934 CLASSIFICATION record, Germline - 0.17, 0.22, 0.24, 1/10 chromosomes, 11/41 individuals, 13/192 ind., 431/548, 89/192 ind. - - - Johan den Dunnen, VKGL-NL_Groningen
+/., +?/. 2 6 c.487C>T TPMT*33 r.(?) p.(Arg163Cys) - benign (!), likely benign (!) g.18139201G>A g.18138970G>A - - TPMT_000330 8.5 units (mercaptopurine derived TGNs 634 pmol at 54 mg/m-2 mercaptopurine); haplotype TPMT*1/*33, 1 more item PubMed: Lennard 2013 - rs112339338 Germline - 1/1137 individuals - - - Johan den Dunnen
+/., +?/. 4 6 c.488G>A TPMT*16 r.(?) p.(Arg163His), p.Arg163His - benign (!), NA g.18139200C>T g.18138969C>T - - TPMT_000160 3x reduced TPMT clearance, expression cloning COS7-cells, reduced activity in 6-TG S-methylation, 1 more item PubMed: Hamdan-Khalil 2005, PubMed: Schaeffeler 2004, PubMed: Ujiie 2008 - rs144041067 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 6 c.488G>C TPMT*22 r.(?) p.(Arg163Pro), p.Arg163Pro - benign (!), NA g.18139200C>G g.18138969C>G - - TPMT_000220 expression cloning COS7-cells, reduced protein expression, no activity in 6-TG S-methylation, 1 more item PubMed: Schaeffeler 2006, PubMed: Ujiie 2008 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., +?/. 3 6i c.495-1G>A TPMT*15 r.spl p.? - benign (!), likely benign (!) g.18134121C>T g.18133890C>T IVS7-1G>A - TPMT_000150 reference haplotype TPMT*15 PubMed: Lindqvist 2004, PubMed: Skrzypczak-Zielinska 2013 - rs9333570 Germline, Unknown - 1/548 - - - Johan den Dunnen
+/. 1 - c.497A>G TPMT*44 r.(?) p.(Tyr166Cys) - benign (!) g.18134118T>C g.18133887T>C - - TPMT_000379 reference haplotype TPMT*44 - ClinVar-SCV000778516 rs201695576 Germline - - - - - Johan den Dunnen
+/. 3 7 c.500C>G TPMT*23 r.(?) p.(Ala167Gly), p.Ala167Gly - benign (!), NA g.18134115G>C g.18133884G>C - - TPMT_000230 expression cloning COS7-cells, reduced activity in 6-TG S-methylation, reference haplotype TPMT*23 PubMed: Lindqvist 2007, OMIM:var0007, PubMed: Ujiie 2008 - rs74423290 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.514T>C TPMT*38 r.(?) p.(Ser172Pro) - benign (!) g.18134101A>G g.18133870A>G - - TPMT_000374 reference haplotype TPMT*38 - - rs772832951 Germline - - - - - Johan den Dunnen
-?/., ?/. 3 7 c.537G>T TPMT*24 r.(?) p.(Gln179His), p.Gln179His - NA, VUS g.18134078C>A g.18133847C>A - - TPMT_000240 no effect on TPMT clearance, not in 200 control chromosomes, reference haplotype TPMT*24 PubMed: Garat 2008 - rs6921269 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 7 c.539A>T TPMT*6 r.(?) p.(Tyr180Phe), p.Tyr180Phe - benign (!), NA g.18134076T>A g.18133845T>A - - TPMT_000060 expression cloning COS7-cells, reduced activity in 6-TG S-methylation, reference haplotype TPMT*6 PubMed: Otterness 1997, PubMed: Ujiie 2008 - rs75543815 Germline, In vitro (cloned) - 1/10 samples - - - Johan den Dunnen
-/. 1 - c.580+14delinsTT - r.(=) p.(=) - benign g.18134021delinsAA g.18133790delinsAA TPMT(NM_000367.4):c.580+14delGinsTT - TPMT_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 7i c.581-87C>T - r.(=) p.(=) - benign g.18132495G>A g.18132264G>A IVS8-87C>T - TPMT_000008 - PubMed: Sasaki 2006 - - Germline - 4/193 ind. - - - Johan den Dunnen
+/. 1 7i c.581-1G>A TPMT*? r.spl p.? - benign (!) g.18132409C>T g.18132178C>T IVS8-1G>A - TPMT_000226 - PubMed: de Beaumais 2009 - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 8 c.595G>A TPMT*36 r.(?) p.(Val199Ile) - likely benign (!), VUS g.18132394C>T g.18132163C>T - - TPMT_000360 published as TPMT*31, reference haplotype TPMT*36 PubMed: Skrzypczak-Zielinska 2013 - - Germline, Unknown - 1/548 chromosomes - - - Johan den Dunnen
+/. 2 8 c.611T>C TPMT*31 r.(?) p.(Ile204Thr) - benign (!) g.18132378A>G g.18132147A>G - - TPMT_000310 reference haplotype TPMT*31; old TPMT*28, TPMT protein destabilised PubMed: Appell 2010 - rs79901429 Germline - - - - - Johan den Dunnen
+/. 2 8 c.622T>C TPMT*26 r.(?) p.(Phe208Leu) - benign (!) g.18132367A>G g.18132136A>G - - TPMT_000260 reference haplotype TPMT*26 PubMed: Kham 2009 - rs72556347 Germline - - - - - Johan den Dunnen
+/., ?/. 4 8i c.626-1G>A TPMT*4 r.spl, r.spl?, r.[626del, 625_626ins626-330_626-1{626-1a>g}] p.? - benign (!), VUS g.18131012C>T g.18130781C>T IVS9-1G>A - TPMT_000040 drug response; 1 heterozygous, no homozygous; Clinindb (India), reference haplotype TPMT*4 PubMed: Narang 2020, Journal: Narang 2020, PubMed: Otterness 1998, OMIM:var0003 - rs1800584 Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+/., +?/. 3 9 c.634T>C TPMT*25 r.(?) p.(Cys212Arg), p.Cys212Arg - likely benign (!), NA g.18131003A>G g.18130772A>G - - TPMT_000250 not in 200 control chromosomes, reference haplotype TPMT*25, significantly reduced TPMT clearance PubMed: Garat 2008 - rs377085266 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., ?/. 3 9 c.644G>A TPMT*8 r.(?) p.(Arg215His), p.Arg215His - NA, VUS g.18130993C>T g.18130762C>T - - TPMT_000080 expression cloning COS7-cells, increased protein expression, reduced activity in 6-TG S-methylation, 1 more item PubMed: Hon 1999, OMIM:var0006, PubMed: Ujiie 2008 - rs56161402 Germline, In vitro (cloned) - - TaiI- - - Johan den Dunnen
+/., ?/. 2 9 c.648T>A TPMT*37 r.(?) p.(Cys216*) - benign (!), VUS g.18130989A>T g.18130758A>T - - TPMT_000370 discovered using exome sequencing; intermediate RBC TPMT activity 8.9U/ml (normal 9.3–17.6U/ml), 1 more item PubMed: Roberts 2014 - rs398122996 Germline -, yes - - - - Johan den Dunnen
+/. 1 - c.677G>A TPMT*40 r.(?) p.(Arg226Gln) - benign (!) g.18130960C>T g.18130729C>T - - TPMT_000376 reference haplotype TPMT*40 - - rs139392616 Germline - - - - - Johan den Dunnen
+/., ?/. 5 9 c.681T>G TPMT*7 r.(?) p.(His227Gln), p.His227Gln - benign (!), NA g.18130956A>C g.18130725A>C - - TPMT_000070 10% TPMT clearance, expression cloning COS7-cells, reduced activity in 6-TG S-methylation, 1 more item PubMed: de la Moureyre 1998, PubMed: Salavaggione 2005, PubMed: Ujiie 2008 - rs72552736 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 9 c.712A>G TPMT*20 r.(?) p.(Lys238Glu), p.Lys238Glu - benign (!), NA g.18130925T>C g.18130694T>C - - TPMT_000200 expression cloning COS7-cells, reduced activity in 6-TG S-methylation, reference haplotype TPMT*20 PubMed: Schaeffeler 2006, PubMed: Ujiie 2008 - rs1142345, rs150900439 Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.719A>C TPMT*41 r.(?) p.(Tyr240Ser) - benign (!) g.18130918T>G g.18130687T>G - - TPMT_000377 reference haplotype TPMT*41 - - rs1142345 Germline - - - - - Johan den Dunnen
+/+, +/., +?/., -?/. 114 9 c.719A>G TPMT*1/*3A, TPMT*1/*3C, TPMT*3A, TPMT*3A/*3A, TPMT*3C, TPMT*3D, TPMT*3E r.(719a>g), r.(?), r.719a>g p.(Tyr240Cys), p.Tyr240Cys - benign (!), likely benign, NA g.18130918T>C g.18130687T>C TPMT*3A, TPMT*3A/*3A - TPMT_000031 1.4x reduced TPMT catalytic activity, instable at 37oC, haplotype TPMT*1/*3A, haplotype TPMT*1/*3C, 14 more items IP3 project, submitted, PubMed: Ameyaw 1999, OMIM:var0002, PubMed: Ameyaw 1999, OMIM:var0005, 27 more items - rs1142345 Germline, In vitro (cloned) - 0.004, 0.045, 1/1137 individuals, 1/199 controls, 1/21 cases, 1/217 controls, 1/248 controls, 17/22, 24 more items AccI+ - - Johan den Dunnen, Jesse Swen
-?/. 1 9 c.*229A>G - r.(?) p.(=) - likely benign g.18130670T>C g.18130439T>C 967A>G - TPMT_000014 no homozygotes PubMed: Sasaki 2006 - - Germline - 1/193 ind. - - - Johan den Dunnen
-?/. 1 9 c.*1900A>C - r.(?) p.(=) - likely benign g.18128999T>G g.18128768T>G rs1142378 - TPMT_000307 - PubMed: Roberts 2014 - rs1142378 Unknown - - - - - Johan den Dunnen
-?/. 1 9 c.*2240A>T - r.(?) p.(=) - likely benign g.18128659T>A g.18128428T>A rs7886 - TPMT_000306 - PubMed: Roberts 2014 - rs7886 Unknown - - - - - Johan den Dunnen
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