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.1A>G TPMT*14 r.(?) p.0? Unknown - NA g.18149358T>C g.18149127T>C Met1Val - TPMT_000140 expression cloning COS7-cells, reduced protein expression, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - rs9333569 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.1A>G TPMT*14 r.(?) p.0? Paternal (confirmed) - benign (!) g.18149358T>C g.18149127T>C Met1Val - TPMT_000140 - PubMed: Lindqvist 2004 - rs9333569 Germline - - - 0 - DNA SEQ - - TPMT - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - 0 - - 1 Johan den Dunnen
+/. 2 c.1A>G TPMT*14 r.(?) p.0? Unknown - benign (!) g.18149358T>C g.18149127T>C - - TPMT_000140 reference haplotype TPMT*14 - - rs9333569 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
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