Full data view for gene TPMT

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 3 c.211G>A TPMT*18 r.(?) p.Gly71Arg Unknown - NA g.18148076C>T g.18147845C>T - - TPMT_000180 expression cloning COS7-cells, slightly reuced protein expression, no activity in 6-TG S-methylation PubMed: Ujiie 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg) Parent #1 - benign (!) g.18148076C>T g.18147845C>T - - TPMT_000180 - PubMed: Schaeffeler 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg) Parent #2 - benign (!) g.18148076C>T g.18147845C>T - - TPMT_000180 - PubMed: Schaeffeler 2004 - - Germline - 2/1214 ind. - 0 - DNA SEQ - - TPMT - - - - - Germany - - 0 - - 2 Johan den Dunnen
+/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg) Unknown - benign (!) g.18148076C>T g.18147845C>T - - TPMT_000180 reference haplotype TPMT*18 - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
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