Full data view for gene TPMT

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

394 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. _1 c.-235_-149= TPMT*V6 r.(=) p.(=) Unknown - likely benign g.18155368_18155454= g.18155137_18155223= 6 repeat units, c.[-235_-218[2];-199_-183[3]] - TPMT_000000 unit structure 2-3-1, 305 bp fragment, identical to ref.sequence PubMed: Spire-Vayron de la Moureyre 1999 - - Germline - 0.08 - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Spire-Vayron de la Moureyre 1999 108 individuals tested - - France - - 0 - - 108 Johan den Dunnen
?/. _1 c.-235_-149= TPMT*V6 r.(=) p.(=) Unknown - VUS g.18155368_18155454= g.18155137_18155223= 6 repeat units - TPMT_000000 larger repeats have small negative effect on promoter activity PubMed: Yan 2000 - - Germline - 25/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
?/. _1 c.? TPMT*V3 r.(=) p.(=) Unknown - VUS g.18155368_18155454? - 3 repeat units - TPMT_000000 - PubMed: Yan 2000 - - Germline - 1/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
+?/. _1 c.? TPMT*V9 r.(=) p.(=) Unknown - likely benign (!) g.18155368_18155454? - 9 repeat units - TPMT_000000 larger repeats have small negative effect on promoter activity PubMed: Yan 2000 - - Germline - 2/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
-?/. _1 c.[-235_-218[5];-181_-149del] TPMT*V7 r.(=) p.(=) Unknown - likely benign g.[18155437_18155452[5];18155368_18155384del] - 7 repeat units, c.[-235_-218[5];-199_-183[1]] - TPMT_000004 unit structure 5-1-1, 305 bp fragment PubMed: Spire-Vayron de la Moureyre 1999 - - Germline - 0.04 - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Spire-Vayron de la Moureyre 1999 108 individuals tested - - France - - 0 - - 108 Johan den Dunnen
+?/. _1 c.[-235_-218[5];-181_-149del] TPMT*V7 r.(=) p.(=) Unknown - likely benign (!) g.[18155437_18155452[5];18155368_18155384del] - 7 repeat units - TPMT_000004 larger repeats have small negative effect on promoter activity PubMed: Yan 2000 - - Germline - 25/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
-?/. _1 c.[-235_-218[6];-181_-149del] TPMT*V8 r.(=) p.(=) Unknown - likely benign g.[18155437_18155452[6];18155368_18155384del] - 8 repeat units, c.[-235_-218[6];-199_-183[1]] - TPMT_000005 unit structure 6-1-1, 323 bp fragment PubMed: Spire-Vayron de la Moureyre 1999 - - Germline - 0.02 - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Spire-Vayron de la Moureyre 1999 108 individuals tested - - France - - 0 - - 108 Johan den Dunnen
+?/. _1 c.[-235_-218[6];-181_-149del] TPMT*V8 r.(=) p.(=) Unknown - likely benign (!) g.[18155437_18155452[6];18155368_18155384del] - 8 repeat units - TPMT_000005 larger repeats have small negative effect on promoter activity PubMed: Yan 2000 - - Germline - 1/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
-?/. _1 c.-182_-149del TPMT*V4 r.(=) p.(=) Unknown - likely benign g.18155385_18155418del g.18155154_18155187del 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 - - Germline - 0.44 - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Spire-Vayron de la Moureyre 1999 108 individuals tested - - France - - 0 - - 108 Johan den Dunnen
-?/. _1 c.-182_-149del TPMT*V4 r.(=) p.(=) Unknown - likely benign g.18155385_18155418del g.18155154_18155187del 4 repeat units - TPMT_000002 - PubMed: Yan 2000 - - Germline - 303/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
?/. _1 c.-178C>T TPMT*1A r.(=) p.(=) Unknown - VUS g.18155397G>A g.18155166G>A - - TPMT_000012 - PubMed: de la Moureyre 1998 - - Germline - - - 0 - DNA SEQ, SSCA - - Healthy/Control - - - - - France - - 0 - - 1 Johan den Dunnen
-?/. _1 c.-178C>T TPMT*1A r.(=) p.(=) Parent #1 - likely benign g.18155397G>A g.18155166G>A - - TPMT_000012 - PubMed: Colombel 2000 - - Germline - 1/41 individuals - 0 - DNA SEQ - - Healthy/Control - - - - - France - - 0 - - 1 Johan den Dunnen
?/. _1 c.-178C>T TPMT*1A r.(=) p.(=) Unknown - VUS g.18155397G>A g.18155166G>A - - TPMT_000012 reference haplotype TPMT*1A - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. _1 c.-165_-149del TPMT*V5 r.(=) p.(=) Unknown - likely benign g.18155368_18155384del g.18155137_18155153del 5 repeat units, c.[-235_-218[2];-199_-183[2]] - TPMT_000003 unit structure 2-2-1, 268 bp fragment Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Spire-Vayron de la Moureyre 1999 - - Germline - 0,43 - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Spire-Vayron de la Moureyre 1999 108 individuals tested - - France - - 0 - - 108 Johan den Dunnen
-?/. _1 c.-165_-149del TPMT*V5 r.(=) p.(=) Unknown - likely benign g.18155368_18155384del g.18155137_18155153del 5 repeat units - TPMT_000003 Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Yan 2000 - - Germline - 201/558 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Yan 2000 558 control chromosomes - - United States - - 0 - - 558 Johan den Dunnen
-/. _1 c.-165_-149del - r.(?) p.(=) Unknown - benign g.18155368_18155384del g.18155137_18155153del - - TPMT_000003 Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Skrzypczak-Zielinska 2013 - - Germline - 292/548 - 0 - DNA MCA, SEQ - - ? - - - - ? Poland - - 0 - - 292 Johan den Dunnen
-?/. 1i c.-44-124G>A - r.(=) p.(=) Unknown - likely benign g.18149526C>T g.18149295C>T rs3930696 - TPMT_000006 - PubMed: Roberts 2014 - rs3930696 Unknown - - - 0 - DNA SEQ, SEQ-NG - - TPMT - PubMed: Roberts 2014 2-generation family, father/son M ? New Zealand - - 0 - - 2 Johan den Dunnen
?/. 1 c.-30T>A - r.(?) p.(=) Parent #1 - VUS g.18149388A>T g.18149157A>T - - TPMT_000013 - PubMed: Otterness 1997 - - Germline - 1/21 samples - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 1 Johan den Dunnen
+/. 2 c.1A>G TPMT*14 r.(?) p.0? Unknown - NA g.18149358T>C g.18149127T>C Met1Val - TPMT_000140 expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs9333569 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.1A>G TPMT*14 r.(?) p.0? Paternal (confirmed) - benign (!) g.18149358T>C g.18149127T>C Met1Val - TPMT_000140 - PubMed: Lindqvist 2004 - rs9333569 Germline - - - 0 - DNA SEQ - - TPMT - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - 0 - - 1 Johan den Dunnen
+/. 2 c.1A>G TPMT*14 r.(?) p.0? Unknown - benign (!) g.18149358T>C g.18149127T>C - - TPMT_000140 reference haplotype TPMT*14 - - rs9333569 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 2 c.2T>C TPMT*29 r.2u>c p.0? Unknown - benign (!) g.18149357A>G g.18149126A>G Met1Thr - TPMT_000290 - PubMed: Lee 2012 - rs267607275 Unknown - - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - TPMT - PubMed: Lee 2012 - M no China - - 0 - - 1 Johan den Dunnen
?/. 1 c.2T>C TPMT*29 r.(?) p.0? Unknown - VUS g.18149357A>G g.18149126A>G - - TPMT_000290 reference haplotype TPMT*29 - - rs267607275 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 2 c.30T>A - r.(?) p.(=) Unknown - likely benign g.18149329A>T g.18149098A>T Ile10Ile - TPMT_000286 - PubMed: Skrzypczak-Zielinska 2013 - rs200780293 Unknown - 1/548 - 0 - DNA MCA, SEQ - - ? - - - - ? Poland - - 0 - - 1 Johan den Dunnen
+?/. 2 c.83A>T TPMT*13 r.(?) p.Glu28Val Unknown - NA g.18149276T>A g.18149045T>A - - TPMT_000130 expression cloning COS7-cells, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs72552742 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.83A>T TPMT*13 r.(?) p.(Glu28Val) Parent #1 - benign (!) g.18149276T>A g.18149045T>A - - TPMT_000130 57% TPMT clearance PubMed: Hamdan-Khalil 2003 - rs72552742 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.83A>T TPMT*13 r.(?) p.(Glu28Val) Unknown - benign (!) g.18149276T>A g.18149045T>A - - TPMT_000130 reference haplotype TPMT*13 - - rs72552742 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. - c.95dup TPMT*42 r.(?) p.(Trp33Valfs*26) Unknown - benign (!) g.18149264dup g.18149033dup 95_96insA - TPMT_000378 reference haplotype TPMT*42 - - rs759836180 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.106G>A TPMT*30 r.(?) p.Gly36Ser Unknown - NA g.18149253C>T g.18149022C>T - - TPMT_000300 expression cloning COS7-cells, reduced activity in 6-TG S-methylation; haplotype reported as TPMT*24 PubMed: Ujiie 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.106G>A TPMT*30 r.(?) p.(Gly36Ser) Parent #1 - VUS g.18149253C>T g.18149022C>T - - TPMT_000300 - PubMed: Sasaki 2006 - - Germline - 1/192 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 1 Johan den Dunnen
?/. 2 c.106G>A TPMT*30 r.(?) p.(Gly36Ser) Unknown - VUS g.18149253C>T g.18149022C>T - - TPMT_000300 reference haplotype TPMT*30; old TPMT*20/*24 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 2 c.124C>G TPMT*17 r.(?) p.Gln42Glu Unknown - NA g.18149235G>C g.18149004G>C - - TPMT_000170 expression cloning COS7-cells, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.124C>G TPMT*17 r.(?) p.(Gln42Glu) Parent #1 - benign (!) g.18149235G>C g.18149004G>C - - TPMT_000170 - PubMed: Schaeffeler 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 2 c.124C>G TPMT*17 r.(?) p.(Gln42Glu) Unknown - benign (!) g.18149235G>C g.18149004G>C - - TPMT_000170 reference haplotype TPMT*17 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. 2i c.140+114T>A TPMT*3E r.(?) p.(=) Parent #1 - VUS g.18149105A>T g.18148874A>T - - TPMT_000033 - PubMed: Otterness 1997 - rs3931660 Germline - - - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 1 Johan den Dunnen
+/. 2i c.140+114T>A TPMT*3E r.(=) p.(=) Unknown - benign (!) g.18149105A>T g.18148874A>T - - TPMT_000033 reference haplotype TPMT*3E - - rs3931660 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. 2i c.141-101A>T - r.(=) p.(=) Unknown - VUS g.18148247T>A g.18148016T>A - - TPMT_000034 - - - rs12529220 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2i c.141-101A>T - r.(=) p.(=) Unknown - likely benign g.18148247T>A g.18148016T>A rs12529220 - TPMT_000034 - PubMed: Roberts 2014 - rs12529220 Unknown - - - 0 - DNA SEQ, SEQ-NG - - TPMT - PubMed: Roberts 2014 2-generation family, father/son M ? New Zealand - - 0 - - 2 Johan den Dunnen
-?/. 2i c.141-101A>T TPMT*3E r.(=) p.(=) Unknown - likely benign g.18148247T>A g.18148016T>A - - TPMT_000034 reference haplotype TPMT*3E - - rs12529220 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 3 c.146T>C TPMT*5 r.(?) p.Leu49Ser Unknown - NA g.18148141A>G g.18147910A>G - - TPMT_000050 - PubMed: Salavaggione 2005 - rs72552740 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.146T>C TPMT*5 r.(?) p.Leu49Ser Unknown - NA g.18148141A>G g.18147910A>G - - TPMT_000050 expression cloning COS7-cells, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs72552740 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.146T>C TPMT*5 r.(?) p.(Leu49Ser) Parent #1 - benign (!) g.18148141A>G g.18147910A>G - - TPMT_000050 - PubMed: Otterness 1997 - rs72552740 Germline - 1/29 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
+/. 3 c.146T>C TPMT*5 r.(?) p.(Leu49Ser) Unknown - benign (!) g.18148141A>G g.18147910A>G - - TPMT_000050 reference haplotype TPMT*5 - - rs72552740 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. 3 c.200T>C TPMT*35 r.(?) p.(Phe67Ser) Unknown - VUS g.18148087A>G g.18147856A>G - - TPMT_000350 published as TPMT*30 PubMed: Skrzypczak-Zielinska 2013 - - Unknown - 1/548 chromosomes - 0 - DNA MCA, SEQ - - ? - PubMed: Skrzypczak-Zielinska 2013 - - ? Poland - - 0 - - 274 Johan den Dunnen
+?/. 3 c.200T>C TPMT*35 r.(?) p.(Phe67Ser) Unknown - likely benign (!) g.18148087A>G g.18147856A>G - - TPMT_000350 reference haplotype TPMT*35 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 3 c.205C>G TPMT*21 r.(?) p.Leu69Val Unknown - NA g.18148082G>C g.18147851G>C - - TPMT_000210 significantly reduced TPMT clearance PubMed: Garat 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.205C>G TPMT*21 r.(?) p.Leu69Val Unknown - NA g.18148082G>C g.18147851G>C - - TPMT_000210 expression cloning COS7-cells, no activity in 6-TG S-methylation PubMed: Ujiie 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val) Parent #1 - benign (!) g.18148082G>C g.18147851G>C - - TPMT_000210 - PubMed: Schaeffeler 2006 - rs200591577 Germline - - - 0 - DNA SEQ - - TPMT - - - - - Germany - - 0 - - 1 Johan den Dunnen
+?/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val) Parent #1 - likely benign (!) g.18148082G>C g.18147851G>C - - TPMT_000210 not in 200 control chromosomes PubMed: Garat 2008 - rs200591577 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val) Unknown - benign (!) g.18148082G>C g.18147851G>C - - TPMT_000210 reference haplotype TPMT*21 - - rs200591577 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 3 c.205C>G TPMT*21 r.(?) p.(Leu69Val) Parent #1 - benign (!) g.18148082G>C g.18147851G>C - - TPMT_000210 activity 6.8 units (mercaptopurine derived TGNs 4060 pmol at 41 mg/m-2 mercaptopurine); haplotype TPMT*1/*21 PubMed: Lennard 2013 - rs200591577 Germline - 1/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 3 c.211G>A TPMT*18 r.(?) p.Gly71Arg Unknown - NA g.18148076C>T g.18147845C>T - - TPMT_000180 expression cloning COS7-cells, slightly reuced protein expression, no activity in 6-TG S-methylation PubMed: Ujiie 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg) Parent #1 - benign (!) g.18148076C>T g.18147845C>T - - TPMT_000180 - PubMed: Schaeffeler 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg) Parent #2 - benign (!) g.18148076C>T g.18147845C>T - - TPMT_000180 - PubMed: Schaeffeler 2004 - - Germline - 2/1214 ind. - 0 - DNA SEQ - - TPMT - - - - - Germany - - 0 - - 2 Johan den Dunnen
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg) Unknown - benign (!) g.18148076C>T g.18147845C>T - - TPMT_000180 reference haplotype TPMT*18 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. - c.218C>T TPMT*39 r.(?) p.(Ala73Val) Unknown - benign (!) g.18148069G>A g.18147838G>A - - TPMT_000375 reference haplotype TPMT*39 - - rs281874771 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - 0 - - 1 Johan den Dunnen
-?/. 3 c.219G>A - r.(?) p.(=) Unknown - likely benign g.18148068C>T g.18147837C>T Ala73Ala - TPMT_000009 - PubMed: Skrzypczak-Zielinska 2013 - - Unknown - 1/548 - 0 - DNA MCA, SEQ - - ? - - - - ? Poland - - 0 - - 1 Johan den Dunnen
-/. 3i c.233+35C>T - r.(?) p.(=) Parent #1 - benign g.18148019G>A g.18147788G>A IVS4+35T>C - TPMT_000016 - PubMed: Sasaki 2006 - rs4449636 Germline - 94/197 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 94 Johan den Dunnen
-/. 3i c.233+35C>T - r.(?) p.(=) Parent #1 - benign g.18148019G>A g.18147788G>A IVS4+35T>C - TPMT_000016 - PubMed: Sasaki 2006 - rs4449636 Germline - 36/197 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 36 Johan den Dunnen
?/. 3i c.233+35C>T - r.(?) p.(=) Parent #1 - VUS g.18148019G>A g.18147788G>A IVS4+35T>C - TPMT_000016 - PubMed: Otterness 1997 - rs4449636 Germline - - - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 1 Johan den Dunnen
-/. 3i c.233+35C>T - r.(?) p.(=) Parent #2 - benign g.18148019G>A g.18147788G>A IVS4+35T>C - TPMT_000016 - PubMed: Sasaki 2006 - rs4449636 Germline - 36/197 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 36 Johan den Dunnen
+?/. 3i c.233+35C>T - r.(=) p.(=) Unknown - likely benign (!) g.18148019G>A g.18147788G>A rs4449636 - TPMT_000016 - PubMed: Roberts 2014 - rs4449636 Unknown - - - 0 - DNA SEQ, SEQ-NG - - TPMT - PubMed: Roberts 2014 2-generation family, father/son M ? New Zealand - - 0 - - 2 Johan den Dunnen
?/. 3i c.233+96G>T - r.(?) p.(=) Parent #1 - VUS g.18147958C>A g.18147727C>A - - TPMT_000017 - PubMed: Otterness 1997 - - Germline - - - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 1 Johan den Dunnen
+/. - c.234G>T TPMT*43 r.(?) p.(Trp78Cys) Parent #1 - benign (!) g.18143959C>A g.18143728C>A - - TPMT_000380 reference haplotype TPMT*43 - ClinVar-SCV000778514 - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.Ala80Pro Unknown - NA g.18143955C>G g.18143724C>G - - TPMT_000020 expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs1800462 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Maternal (confirmed) - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 100x reduced TPMT catalytic activity; unknown variant 2nd chromosome PubMed: Krynetski 1995, OMIM:var0001 - rs1800462 Germline - - CviRI- 0 - DNA, RNA RT-PCR, SEQ - - TPMT - PubMed: Evans 1991 2-generation family, 1 affected - no United States - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Tai 1996 - rs1800462 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - 2-generation family, 1 affected, unaffected carrier parents - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 100x reduced TPMT catalytic activity PubMed: Krynetski 1995, OMIM:var0001 - rs1800462 Germline - - CviRI- 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - 2-generation family, unaffected carrier mother - no United States - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Collie-Duguid 1999 - rs1800462 Germline - 2/248 controls - 0 - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - Caucasian - 0 - - 2 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: de la Moureyre 1998 - rs1800462 Germline - - - 0 - DNA SEQ, SSCA - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Colombel 2000 - rs1800462 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Colombel 2000 - rs1800462 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Schaeffeler 2004 - rs1800462 Germline - 0.002 - 0 - DNA SEQ - - TPMT - - 111 cases in 1214 individuals - - Germany - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Ameyaw 1999, OMIM:var0001 - rs1800462 Germline - 2/199 controls - 0 - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) Caucasian - 0 - - 2 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Yates 1997 - rs1800462 Germline - 1/6 cases - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Yates 1997 - rs1800462 Germline - 1/21 cases - 0 - DNA SEQ - - TPMT - - analysis 21 ALL patients - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Hon 1999 - rs1800462 Germline - 4/248 controls - 0 - DNA SEQ - - TPMT - - test of 248 African-American indidivuals - - United States African American - 0 - - 2 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Otterness 1997 - rs1800462 Germline - 1/29 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #2 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: de Beaumais 2009 - rs1800462 Germline - - - 0 - DNA SEQ - - TPMT - - - - - Iran - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #2 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Yates 1997 - rs1800462 Germline - 1/6 cases - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro Parent #2 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 - PubMed: Yates 1997 - rs1800462 Germline - 1/6 cases - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/+ 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 reference haplotype TPMT*2; no activity - - rs1800462 Germline - - - 0 - DNA SEQ - - DMB-up - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G TPMT*1/*2 - TPMT_000020 haplotype TPMT*1/*2 PubMed: Lennard 2013 - - Germline - 4/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - 4 Johan den Dunnen
+/. 4 c.238G>C TPMT*2 r.(?) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G TPMT*2 - TPMT_000020 haplotype TPMT*2/*3A PubMed: Lennard 2013 - - Germline - 1/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
+/. 4 c.238G>C TPMT*1/*2 r.(238g>c) p.(Ala80Pro) Parent #1 - benign (!) g.18143955C>G g.18143724C>G - - TPMT_000020 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 27005 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
?/. - c.238G>C - r.(?) p.(Ala80Pro) Unknown - VUS g.18143955C>G g.18143724C>G TPMT(NM_000367.4):c.238G>C (p.A80P) - TPMT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp) Unknown - benign (!) g.18143949G>A g.18143718G>A - - TPMT_000340 activity 8.0units (thioguanine derived TGNs 3006 pmol at 44 mg/m-2 thioguanine); haplotype TPMT*1/*34 PubMed: Lennard 2013 - rs111901354 Germline - 1/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - ? (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+?/. 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp) Unknown - likely benign (!) g.18143949G>A g.18143718G>A - - TPMT_000340 reference haplotype TPMT*34 - - rs111901354 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. - c.262G>A TPMT*43 r.(?) p.(Gly88Ser) Parent #1 - benign (!) g.18143931C>T g.18143700C>T - - TPMT_000381 reference haplotype TPMT*43 - ClinVar-SCV000778515 rs753545734 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.291del - r.(?) p.(Glu98AsnfsTer51) Paternal (confirmed) - benign (!) g.18143903del g.18143672del - - TPMT_000296 TPMT*? PubMed: Torres 2010 - - Germline - - - 0 - DNA SEQ - - TPMT - - 2-generation family, 1 affected, reduced TPMT activity carrier parents - - France Caucasian - 0 - - 1 Johan den Dunnen
+/. 4 c.292G>T TPMT*3D r.(?) p.(Glu98*) Parent #1 - benign (!) g.18143901C>A g.18143670C>A - - TPMT_000032 - PubMed: Otterness 1997 - rs72552739 Germline - 1/29 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
-?/. 4 c.292G>T TPMT*3D r.(?) p.(Glu98*) Unknown - likely benign g.18143901C>A g.18143670C>A - - TPMT_000032 reference haplotype TPMT*3D - - rs72552739 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 4 c.319T>G TPMT*27 r.(?) p.(Tyr107Asp) Parent #1 - benign (!) g.18143874A>C g.18143643A>C - - TPMT_000270 - PubMed: Feng 2010 - - Germline - - - 0 - DNA SEQ - - TPMT - - - - - Thailand - - 0 - - 1 Johan den Dunnen
+/. 4 c.319T>G TPMT*27 r.(?) p.(Tyr107Asp) Unknown - benign (!) g.18143874A>C g.18143643A>C - - TPMT_000270 reference haplotype TPMT*27 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 4 c.339C>T - r.(?) p.(=) Unknown - likely benign g.18143854G>A g.18143623G>A - - TPMT_000019 - PubMed: Otterness 1997 - - Germline - 1/30 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
-?/. 4 c.339C>T - r.(?) p.(=) Unknown - likely benign g.18143854G>A g.18143623G>A - - TPMT_000019 - PubMed: Otterness 1997 - - Germline - 1/25 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
+/. 4 c.340G>A TPMT*32 r.(?) p.(Glu114Lys) Unknown - benign (!) g.18143853C>T g.18143622C>T - - TPMT_000320 activity 9.7 units (mercaptopurine derived TGNs 694 pmol at 75 mg/m-2 mercaptopurine); haplotype TPMT*1/*32 PubMed: Lennard 2013 - rs115106679 Germline - 1/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - ? (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+?/. 4 c.340G>A TPMT*32 r.(?) p.(Glu114Lys) Unknown - likely benign (!) g.18143853C>T g.18143622C>T - - TPMT_000320 reference haplotype TPMT*32 - - rs115106679 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 4 c.349G>C TPMT*28 r.(?) p.(Gly117Arg) Parent #1 - benign (!) g.18143844C>G g.18143613C>G 349G>A - TPMT_000280 suggested residual TPMT activity PubMed: Landy 2010 - - Germline - - - 0 - DNA SEQ - - TPMT - - - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 4 c.349G>C TPMT*28 r.(?) p.(Gly117Arg) Unknown - benign (!) g.18143844C>G g.18143613C>G - - TPMT_000280 reference haplotype TPMT*28 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »