Full data view for gene TPMT

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

84 entries on 1 page. Showing entries 1 - 84.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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VIP     

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Owner     
+/. 6 c.460G>A TPMT*3B r.(?) p.Ala154Thr Unknown - NA g.18139228C>T g.18138997C>T - - TPMT_000030 9x reduced TPMT catalytic activity, instable at 37oC PubMed: Tai 1996, OMIM:var0002 - rs1800460 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.460G>A TPMT*3B r.(?) p.Ala154Thr Unknown - NA g.18139228C>T g.18138997C>T - - TPMT_000030 reduced TPMT catalytic activity PubMed: Szumlanski 1996, OMIM:var0004 - rs1800460 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.460G>A TPMT*3B r.(?) p.Ala154Thr Unknown - NA g.18139228C>T g.18138997C>T - - TPMT_000030 expression cloning COS7-cells, no activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs1800460 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Paternal (confirmed) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1998 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 3-generation family, 3 affecteds - - United States white - - - - 2 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Paternal (confirmed) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Lindqvist 2004 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Paternal (inferred) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Lindqvist 2007 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 2 affected sisters - - Sweden - - - - - 2 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1800460 Germline - 16/248 controls - - - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - white - - - - 16 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 no *2, *3B/C alleles detected PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1800460 Germline - 2/99 controls - - - DNA SEQ - - Healthy/Control - - test of 99 indidivuals - - - Asia, South-West - - - - 2 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1800460 Germline - 1/248 controls - - - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Leipold 1997, OMIM:var0002 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 1 affected - - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: de la Moureyre 1998 - rs1800460 Germline - - - - - DNA SEQ, SSCA - - THPM1 - - - - - France - - - - - 2 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Colombel 2000 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - France - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Colombel 2000 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - France - - - - - 5 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Schaeffeler 2004 - rs1800460 Germline - 5/1214 ind. - - - DNA SEQ - - THPM1 - - - - - Germany - - - - - 5 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Schaeffeler 2004 - rs1800460 Germline - 2/1214 ind. - - - DNA SEQ - - THPM1 - - - - - Germany - - - - - 2 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Schaeffeler 2004 - rs1800460 Germline - 0.045 - - - DNA SEQ - - THPM1 - - 111 cases in 1214 individuals - - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A - r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Tai 1996 - rs1800460 Germline - 17/22 MwoI- - - DNA SEQ - - THPM1 - - suspected TPMT carriers - no United States white - - - - 17 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Tai 1996, OMIM:var0002 - rs1800460 Germline - - MwoI- - - DNA, RNA RT-PCR, SEQ - - THPM1 - PubMed: McLeod 1993 1 affected - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Szumlanski 1996, OMIM:var0002 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 3 carriers with intermediate TPMT activity - - - white - - - - 3 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Ameyaw 1999, OMIM:var0002 - rs1800460 Germline - 16/199 controls - - - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) white - - - - 16 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Ameyaw 1999, OMIM:var0002 - rs1800460 Germline - 1/199 controls - - - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Yates 1997 - rs1800460 Germline - 3/6 cases - - - DNA, RNA RT-PCR, SEQ - - THPM1 - - analysis 6 cases - - United States white - - - - 3 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Yates 1997 - rs1800460 Germline - 1/6 cases - - - DNA, RNA RT-PCR, SEQ - - THPM1 - - analysis 6 cases - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Yates 1997 - rs1800460 Germline - 1/6 cases - - - DNA SEQ - - THPM1 - - analysis 6 cases - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Yates 1997 - rs1800460 Germline - 18/21 cases - - - DNA SEQ - - THPM1 - - analysis 21 ALL patients - - United States white - - - - 18 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Hon 1999, OMIM:var0002 - rs1800460 Germline - 2/248 controls - - - DNA SEQ - - THPM1 - - test of 248 African-American indidivuals - - United States African American - - - - 4 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1997 - rs1800460 Germline - 16/29 samples - - - DNA SEQ - - THPM1 - - from 283 controls analysed - - United States - - - - - 16 Johan den Dunnen
+/. 6 c.460G>A TPMT*3B r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1997 - rs1800460 Germline - 2/29 samples - - - DNA SEQ - - THPM1 - - from 283 controls analysed - - United States - - - - - 2 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1997 - rs1800460 Germline - 4/25 samples - - - DNA SEQ - - THPM1 - - From 25 controls analysed - - Norway - - - - - 4 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1998 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 3-generation family, 3 unaffected carriers - - United States white - - - - 3 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1998 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1998 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Szumlanski 1996, OMIM:var0002 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 4 patients - - - white - - - - 4 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Skrzypczak-Zielinska 2013 - rs1800460 Germline - 18/548 - - - DNA MCA, SEQ - - ? - - - - ? Poland - - - - - 18 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Maternal (confirmed) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 undetectable TPMT catalytic activity PubMed: Tai 1996, OMIM:var0002 - rs1800460 Germline - - MwoI- - - DNA, RNA RT-PCR, SEQ - - THPM1 - - 2-generation family, 1 affected, unaffected carrier parents - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3D r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1997 - rs1800460 Germline - 1/29 samples - - - DNA SEQ - - THPM1 - - from 283 controls analysed - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1997 - rs1800460 Germline - 1/283 samples - - - DNA SEQ - - THPM1 - - from 283 controls analysed - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Schaeffeler 2003 - rs1800460 Germline - - - - - DNA, RNA RT-PCR, SEQ - - THPM1 - - - - - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Maternal (confirmed) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Lindqvist 2004 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Maternal (confirmed) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Torres 2010 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 2-generation family, 1 affected, reduced TPMT activity carrier parents - - France white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Landy 2010 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Collie-Duguid 1999, OMIM:var0002 - rs1800460 Germline - 1/248 controls - - - DNA SEQ - - Healthy/Control - - test of 199 indidivuals - - - white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Kurzawski 2005, OMIM:var0002 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 1 affected - - Poland - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Leipold 1997, OMIM:var0002 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 1 affected - - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: de la Moureyre 1998 - rs1800460 Germline - - - - - DNA SEQ, SSCA - - THPM1 - - - - - France - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: de la Moureyre 1998 - rs1800460 Germline - - - - - DNA SEQ, SSCA - - THPM1 - - - - - France - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Colombel 2000 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - France - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Colombel 2000 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - France - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Colombel 2000 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - France - - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Schaeffeler 2004 - rs1800460 Germline - 5/1214 ind. - - - DNA SEQ - - THPM1 - - - - - Germany - - - - - 5 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Tai 1996, OMIM:var0002 - rs1800460 Germline - - MwoI- - - DNA, RNA RT-PCR, SEQ - - THPM1 - PubMed: McLeod 1993 1 affected - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Ameyaw 1999, OMIM:var0002 - rs1800460 Germline - 1/199 controls - - - DNA SEQ - - Healthy/Control - - analysis 199 control subjects - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.460g>a p.Ala154Thr Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Yates 1997 - rs1800460 Germline - 3/6 cases - - - DNA, RNA RT-PCR, SEQ - - THPM1 - - analysis 6 cases - - United States white - - - - 3 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1998 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Otterness 1998 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - - - - United States white - - - - 1 Johan den Dunnen
+/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Szumlanski 1996, OMIM:var0002 - rs1800460 Germline - - - - - DNA SEQ - - THPM1 - - 4 patients - - - white - - - - 4 Johan den Dunnen
-?/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Unknown - likely benign g.18139228C>T g.18138997C>T - - TPMT_000030 reference haplotype TPMT*3A - - rs1800460 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ 6 c.460G>A TPMT*3B r.(?) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 reference haplotype TPMT*3B; no activity - - rs1800460 Germline - - - - - DNA SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 6 c.460G>A TPMT*3D r.(?) p.(Ala154Thr) Unknown - likely benign g.18139228C>T g.18138997C>T - - TPMT_000030 reference haplotype TPMT*3D - - rs1800460 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 6 c.460G>A TPMT*3E r.(?) p.(Ala154Thr) Unknown - likely benign g.18139228C>T g.18138997C>T - - TPMT_000030 reference haplotype TPMT*3E - - rs1800460 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #1 - likely benign g.18139228C>T g.18138997C>T - - TPMT_000030 haplotype TPMT*1/*3A PubMed: Lennard 2013 - rs1800460 Germline - 100/1137 individuals - - - DNA SEQ - - THPM1 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - - - - 100 Johan den Dunnen
-?/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Both (homozygous) - likely benign g.18139228C>T g.18138997C>T TPMT*3A/*3A - TPMT_000030 haplotype TPMT*3A/*3A PubMed: Lennard 2013 - - Germline - 1/1137 individuals - - - DNA SEQ - - THPM1 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
-?/. 6 c.460G>A TPMT*3A r.(?) p.(Ala154Thr) Parent #2 - likely benign g.18139228C>T g.18138997C>T TPMT*3A - TPMT_000030 haplotype TPMT*2/*3A PubMed: Lennard 2013 - - Germline - 1/1137 individuals - - - DNA SEQ - - THPM1 - PubMed: Lennard 2013 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.460G>A - r.(?) p.(Ala154Thr) Unknown - pathogenic g.18139228C>T g.18138997C>T TPMT(NM_000367.5):c.460G>A (p.A154T) - TPMT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1011 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13010 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 42002 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 43003 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 22006 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6008 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25005 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 9012 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5016 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 12004 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13017 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 21001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 2004 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13008 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3012 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5002 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 9008 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*1/*3A r.(460g>a) p.(Ala154Thr) Parent #1 - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 17002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.460G>A TPMT*3A/*3A r.(460g>a) p.(Ala154Thr) Both (homozygous) - benign (!) g.18139228C>T g.18138997C>T - - TPMT_000030 poor metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 22005 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-?/. - c.460G>A - r.(?) p.(Ala154Thr) Parent #1 - likely benign g.18139228C>T g.18138997C>T - - TPMT_000030 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800460 Germline - 33/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 33 Mohammed Faruq
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