Full data view for gene TPMT

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

22 entries on 1 page. Showing entries 1 - 22.
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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     
+/. 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 - - - - - - - - - - - - - - - - - - - - - - -
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