Full data view for gene TPMT

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

18 entries on 1 page. Showing entries 1 - 18.
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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     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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VIP     

Data_av     

Treatment     

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Owner     
-?/. 6 c.474C= - r.(?) p.(Ile158=) Unknown - likely benign g.18139214G>A g.18138983G>A rs2842934 - TPMT_000011 variant from TPMT*1S haplotype Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Roberts 2014 - rs2842934 Unknown - - - 0 - DNA SEQ, SEQ-NG - - TPMT - PubMed: Roberts 2014 2-generation family, father/son M ? New Zealand - - 0 - - 2 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 determined in 30 samples PubMed: Otterness 1997 - rs2842934 Germline - 0.22 - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
-/- 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #1 - benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: de Beaumais 2009 - rs2842934 Germline - - - 0 - DNA SEQ - - TPMT - - - - - Iran - - 0 - - 1 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: de la Moureyre 1998 - rs2842934 Germline - 1/10 chromosomes - 0 - DNA SEQ, SSCA - - Healthy/Control - - - - - France - - 0 - - 1 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #1 - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: de la Moureyre 1998 - rs2842934 Germline - - - 0 - DNA SEQ, SSCA - - Healthy/Control - - - - - France - - 0 - - 2 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #1 - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 11 individuals (1 homozygous) PubMed: Colombel 2000 - rs2842934 Germline - 11/41 individuals - 0 - DNA SEQ - - Healthy/Control - - - - - France - - 0 - - 12 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #1 - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: Sasaki 2006 - rs2842934 Germline - 89/192 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 89 Johan den Dunnen
-/. 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #1 - benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: Sasaki 2006 - rs2842934 Germline - 13/192 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 13 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A 474T>C - TPMT_000011 - PubMed: Yates 1997 - rs2842934 Germline - - - 0 - DNA SEQ - - Healthy/Control - - several cases - - United States Caucasian - 0 - - 1 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 determined in 25 samples PubMed: Otterness 1997 - rs2842934 Germline - 0.24 - 0 - DNA SEQ - - TPMT - - from 283 controls analysed - - United States - - 0 - - 1 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 determined in 21 samples PubMed: Otterness 1997 - rs2842934 Germline - 0.17 - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 1 Johan den Dunnen
-/. 6 c.474C>T - r.(?) p.(=) Unknown - benign g.18139214G>A g.18138983G>A Ile158Ile - TPMT_000011 - PubMed: Skrzypczak-Zielinska 2013 - rs2842934 Germline - 431/548 - 0 - DNA MCA, SEQ - - ? - - - - ? Poland - - 0 - - 431 Johan den Dunnen
-/- 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #2 - benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: de Beaumais 2009 - rs2842934 Germline - - - 0 - DNA SEQ - - TPMT - - - - - Iran - - 0 - - 1 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #2 - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: de la Moureyre 1998 - rs2842934 Germline - - - 0 - DNA SEQ, SSCA - - Healthy/Control - - - - - France - - 0 - - 2 Johan den Dunnen
-/. 6 c.474C>T TPMT*1S r.(?) p.(=) Parent #2 - benign g.18139214G>A g.18138983G>A - - TPMT_000011 - PubMed: Sasaki 2006 - rs2842934 Germline - 13/192 ind. - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Japan - - 0 - - 13 Johan den Dunnen
-?/. 6 c.474C>T TPMT*1S r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 reference haplotype TPMT*1S - - rs2842934 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 6 c.474C>T TPMT*3E r.(?) p.(=) Unknown - likely benign g.18139214G>A g.18138983G>A - - TPMT_000011 reference haplotype TPMT*3E - - rs2842934 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.474C>T - r.(?) p.(Ile158=) Unknown - benign g.18139214G>A g.18138983G>A TPMT(NM_000367.4):c.474C>T (p.I158=) - TPMT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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