Full data view for gene TPMT

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 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
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