Individual #00025520

ID_report -
Reference PubMed: Evans 1991
Remarks 2-generation family, 1 affected
Gender -
Consanguinity no
Country United States
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     
0000021733 severe hematologic toxicity after oral mercaptopurine therapy for acute lymphoblastic leukemia - - Familial - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025524 DNA;RNA RT-PCR;SEQ - - TPMT 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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 Maternal (confirmed) +/. g.18143955C>G g.18143724C>G - - TPMT_000020 100x reduced TPMT catalytic activity; unknown variant 2nd chromosome PubMed: Krynetski 1995, OMIM:var0001 - rs1800462 Germline - - CviRI- 0 - Johan den Dunnen TPMT - - - - - 4 NM_000367.2:c.238G>C TPMT*2 risk r.238g>c p.Ala80Pro - - - - - - - - - - - - - - - - - - -
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