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     
+/. 7 c.539A>T TPMT*6 r.(?) p.Tyr180Phe Unknown - NA g.18134076T>A g.18133845T>A - - TPMT_000060 expression cloning COS7-cells, reduced activity in 6-TG S-methylation PubMed: Ujiie 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.539A>T TPMT*6 r.(?) p.(Tyr180Phe) Parent #1 - benign (!) g.18134076T>A g.18133845T>A - - TPMT_000060 - PubMed: Otterness 1997 - rs75543815 Germline - 1/10 samples - 0 - DNA SEQ - - TPMT - - from 21 controls analysed - - Korea - - 0 - - 1 Johan den Dunnen
+/. 7 c.539A>T TPMT*6 r.(?) p.(Tyr180Phe) Unknown - benign (!) g.18134076T>A g.18133845T>A - - TPMT_000060 reference haplotype TPMT*6 - - rs75543815 Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
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