Full data view for gene TPMT

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

2 entries on 1 page. Showing entries 1 - 2.
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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.244C>T TPMT*34 r.(?) p.(Arg82Trp) Unknown - benign (!) g.18143949G>A g.18143718G>A - - TPMT_000340 activity 8.0units (thioguanine derived TGNs 3006 pmol at 44 mg/m-2 thioguanine); haplotype TPMT*1/*34 PubMed: Lennard 2013 - rs111901354 Germline - 1/1137 individuals - 0 - DNA SEQ - - TPMT - PubMed: Lennard 2013 - - ? (United Kingdom (Great Britain)) - - 0 - - 1 Johan den Dunnen
+?/. 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp) Unknown - likely benign (!) g.18143949G>A g.18143718G>A - - TPMT_000340 reference haplotype TPMT*34 - - rs111901354 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
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