Full data view for gene TPMT

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

114 entries on 2 pages. Showing entries 1 - 100.
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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     
+?/. 9 c.719A>G TPMT*3C r.(?) p.Tyr240Cys Unknown - NA g.18130918T>C g.18130687T>C - - TPMT_000031 1.4x reduced TPMT catalytic activity, instable at 37oC PubMed: Tai 1996, OMIM:var0002 - rs1142345 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.719A>G TPMT*3C r.(?) p.Tyr240Cys Unknown - NA g.18130918T>C g.18130687T>C - - TPMT_000031 reduced TPMT catalytic activity PubMed: Szumlanski 1996, OMIM:var0005 - rs1142345 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.719A>G TPMT*3C r.(?) p.Tyr240Cys Unknown - NA g.18130918T>C g.18130687T>C - - TPMT_000031 expression cloning COS7-cells, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs1142345 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 1/283 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 no *2, *3A/B alleles detected PubMed: Collie-Duguid 1999, OMIM:var0005 - rs1142345 Germline - 9/192 controls - 0 - DNA SEQ - - Healthy/Control - - test of 192 indidivuals - - - Chinese - 0 - - 9 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Collie-Duguid 1999, OMIM:var0005 - rs1142345 Germline - 1/248 controls - 0 - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 no *2, *3A/B alleles detected PubMed: Hiratsuka 2000, OMIM:var0005 - rs1142345 Germline - 3/192 controls - 0 - DNA SEQ - - Healthy/Control - - test of 192 indidivuals - - Japan - - 0 - - 3 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 no *2, *3A/B alleles detected PubMed: Liu 2006, OMIM:var0005 - rs1142345 Germline - 4/528 controls - 0 - DNA SEQ - - Healthy/Control - - test of 528 indidivuals (Taiwan 409 aborigines and 117 Taiwan) - - Taiwan - - 0 - - 4 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Kurzawski 2005, OMIM:var0005 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 1 affected - - Poland - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: de la Moureyre 1998 - rs1142345 Germline - - - 0 - DNA SEQ, SSCA - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2004 - rs1142345 Germline - 0.004 - 0 - DNA SEQ - - TPMT - - 111 cases in 1214 individuals - - Germany - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 no *2, *3A and *3B alleles encountered PubMed: Ameyaw 1999, OMIM:var0005 - rs1142345 Germline - 31/217 controls - 0 - DNA SEQ - - Healthy/Control - - analysis 217 control subjects - - Ghana African - 0 - - 31 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Ameyaw 1999, OMIM:var0005 - rs1142345 Germline - 1/217 controls - 0 - DNA SEQ - - ? - - analysis 217 control subjects - - Ghana African - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Ameyaw 1999, OMIM:var0005 - rs1142345 Germline - 1/199 controls - 0 - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 1/21 cases - 0 - DNA SEQ - - TPMT - - analysis 21 ALL patients - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Hon 1999, OMIM:var0005 - rs1142345 Germline - 12/248 controls - 0 - DNA SEQ - - TPMT - - test of 248 African-American indidivuals - - United States African American - 0 - - 12 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 3/29 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 3 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 1/25 samples - 0 - DNA SEQ - - TPMT - - From 25 controls analysed - - Norway - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 4/10 samples - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 4 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Maternal (confirmed) - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 undetectable TPMT catalytic activity PubMed: Tai 1996, OMIM:var0002 - rs1142345 Germline - - AccI+ 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - 2-generation family, 1 affected, unaffected carrier parents - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3D r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 1/29 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 1/283 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Paternal (confirmed) - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1998 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 3-generation family, 3 affecteds - - United States Caucasian - 0 - - 2 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2003 - rs1142345 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Maternal (confirmed) - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Lindqvist 2004 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Paternal (confirmed) - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Lindqvist 2004 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Paternal (inferred) - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Lindqvist 2007 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 2 affected sisters - - Sweden - - 0 - - 2 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Maternal (confirmed) - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Torres 2010 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 2-generation family, 1 affected, reduced TPMT activity carrier parents - - France Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Landy 2010 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1142345 Germline - 16/248 controls - 0 - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - Caucasian - 0 - - 16 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 no *2, *3B/C alleles detected PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1142345 Germline - 2/99 controls - 0 - DNA SEQ - - Healthy/Control - - test of 99 indidivuals - - - Asia, South-West - 0 - - 2 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1142345 Germline - 1/248 controls - 0 - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1142345 Germline - 1/248 controls - 0 - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Kurzawski 2005, OMIM:var0002 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 1 affected - - Poland - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Leipold 1997, OMIM:var0002 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 1 affected - - Germany - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Leipold 1997, OMIM:var0002 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 1 affected - - Germany - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: de la Moureyre 1998 - rs1142345 Germline - - - 0 - DNA SEQ, SSCA - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: de la Moureyre 1998 - rs1142345 Germline - - - 0 - DNA SEQ, SSCA - - TPMT - - - - - France - - 0 - - 2 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Colombel 2000 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - France - - 0 - - 5 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2004 - rs1142345 Germline - 5/1214 ind. - 0 - DNA SEQ - - TPMT - - - - - Germany - - 0 - - 5 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2004 - rs1142345 Germline - 5/1214 ind. - 0 - DNA SEQ - - TPMT - - - - - Germany - - 0 - - 5 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2004 - rs1142345 Germline - 2/1214 ind. - 0 - DNA SEQ - - TPMT - - - - - Germany - - 0 - - 2 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2004 - rs1142345 Germline - 0.045 - 0 - DNA SEQ - - TPMT - - 111 cases in 1214 individuals - - Germany - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G - r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Tai 1996 - rs1142345 Germline - 17/22 AccI+ 0 - DNA SEQ - - TPMT - - suspected TPMT carriers - no United States Caucasian - 0 - - 17 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Tai 1996, OMIM:var0002 - rs1142345 Germline - - AccI+ 0 - DNA, RNA RT-PCR, SEQ - - TPMT - PubMed: McLeod 1993 1 affected - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Tai 1996, OMIM:var0002 - rs1142345 Germline - - AccI+ 0 - DNA, RNA RT-PCR, SEQ - - TPMT - PubMed: McLeod 1993 1 affected - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Szumlanski 1996, OMIM:var0002 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 3 carriers with intermediate TPMT activity - - - Caucasian - 0 - - 3 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Ameyaw 1999, OMIM:var0005 - rs1142345 Germline - 1/217 controls - 0 - DNA SEQ - - ? - - analysis 217 control subjects - - Ghana African - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Ameyaw 1999, OMIM:var0002 - rs1142345 Germline - 16/199 controls - 0 - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) Caucasian - 0 - - 16 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Ameyaw 1999, OMIM:var0002 - rs1142345 Germline - 1/199 controls - 0 - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Ameyaw 1999, OMIM:var0002 - rs1142345 Germline - 1/199 controls - 0 - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 3/6 cases - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 3 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 3/6 cases - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 3 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.719a>g p.Tyr240Cys Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 1/6 cases - 0 - DNA, RNA RT-PCR, SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 1/6 cases - 0 - DNA SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 1/6 cases - 0 - DNA SEQ - - TPMT - - analysis 6 cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Yates 1997 - rs1142345 Germline - 18/21 cases - 0 - DNA SEQ - - TPMT - - analysis 21 ALL patients - - United States Caucasian - 0 - - 18 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Hon 1999, OMIM:var0002 - rs1142345 Germline - 2/248 controls - 0 - DNA SEQ - - TPMT - - test of 248 African-American indidivuals - - United States African American - 0 - - 4 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 16/29 samples - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 16 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1997 - rs1142345 Germline - 4/25 samples - 0 - DNA SEQ - - TPMT - - From 25 controls analysed - - Norway - - 0 - - 4 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1998 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 3-generation family, 3 unaffected carriers - - United States Caucasian - 0 - - 3 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1998 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1998 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1998 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Otterness 1998 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - - - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Szumlanski 1996, OMIM:var0002 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 4 patients - - - Caucasian - 0 - - 4 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Szumlanski 1996, OMIM:var0002 - rs1142345 Germline - - - 0 - DNA SEQ - - TPMT - - 4 patients - - - Caucasian - 0 - - 4 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Skrzypczak-Zielinska 2013 - rs1142345 Germline - 18/548 - 0 - DNA MCA, SEQ - - ? - - - - ? Poland - - 0 - - 18 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Unknown - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 reference haplotype TPMT*3A; reduced activity - - rs1142345 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/+ 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 reference haplotype TPMT*3C; no activity - - rs1142345 Germline - - - 0 - DNA SEQ - - DMB-up - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 9 c.719A>G TPMT*3D r.(?) p.(Tyr240Cys) Unknown - likely benign g.18130918T>C g.18130687T>C - - TPMT_000031 reference haplotype TPMT*3D - - rs1142345 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 9 c.719A>G TPMT*3E r.(?) p.(Tyr240Cys) Unknown - likely benign g.18130918T>C g.18130687T>C - - TPMT_000031 reference haplotype TPMT*3E; reduced activity - - rs1142345 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 haplotype TPMT*1/*3A PubMed: Lennard 2013 - rs1142345 Germline - 100/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - 100 Johan den Dunnen
+/. 9 c.719A>G TPMT*3C r.(?) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 haplotype TPMT*1/*3C PubMed: Lennard 2013 - - Germline - 17/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - 17 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Both (homozygous) - benign (!) g.18130918T>C g.18130687T>C TPMT*3A/*3A - TPMT_000031 haplotype TPMT*3A/*3A PubMed: Lennard 2013 - - Germline - 1/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+/. 9 c.719A>G TPMT*3A r.(?) p.(Tyr240Cys) Parent #2 - benign (!) g.18130918T>C g.18130687T>C TPMT*3A - TPMT_000031 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
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6020 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3021 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1001 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 40005 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13001 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 26002 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1008 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 17001 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25006 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13006 IP3 project, submitted - M no Netherlands Arabic - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3C r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 40004 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3A r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1011 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3A r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13010 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3A r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 42002 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3A r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 43003 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 9 c.719A>G TPMT*1/*3A r.(719a>g) p.(Tyr240Cys) Parent #1 - benign (!) g.18130918T>C g.18130687T>C - - TPMT_000031 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 22006 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
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