Individual #00025585

ID_report -
Reference -
Remarks 111 cases in 1214 individuals
Gender -
Consanguinity -
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases TPMT
Owner name Johan den Dunnen


Phenotypes

thiopurine S-methyltransferase deficiency (TPMT) (TPMT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000021702 TPMT deficiency reduced - - Familial - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025589 DNA SEQ - - TPMT 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA 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     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
6 Parent #1 +/. g.18130918T>C g.18130687T>C - - TPMT_000031 - PubMed: Schaeffeler 2004 - rs1142345 Germline - 0.045 - 0 - Johan den Dunnen TPMT - - - - - 9 NM_000367.2:c.719A>G TPMT*3A risk r.(?) p.(Tyr240Cys) - - - - - - - - - - - - - - - - - - -
6 Parent #1 +/. g.18139228C>T g.18138997C>T - - TPMT_000030 - PubMed: Schaeffeler 2004 - rs1800460 Germline - 0.045 - 0 - Johan den Dunnen TPMT - - - - - 6 NM_000367.2:c.460G>A TPMT*3A risk r.(?) p.(Ala154Thr) - - - - - - - - - - - - - - - - - - -
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