Individual #00025519

ID_report -
Reference PubMed: Roberts 2014
Remarks 2-generation family, father/son
Gender M
Consanguinity ?
Country New Zealand
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
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     
0000021761 see paper; intermediate RBC TPMT activity - - Familial 67y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025523 DNA SEQ;SEQ-NG - - TPMT 8 Johan den Dunnen



Variants

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
6 Unknown g.18128659T>A g.18128428T>A rs7886 - TPMT_000306 - PubMed: Roberts 2014 - rs7886 Unknown - - - 0 - Johan den Dunnen TPMT -?/. - - - - - 9 NM_000367.2:c.*2240A>T - likely benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18128999T>G g.18128768T>G rs1142378 - TPMT_000307 - PubMed: Roberts 2014 - rs1142378 Unknown - - - 0 - Johan den Dunnen TPMT -?/. - - - - - 9 NM_000367.2:c.*1900A>C - likely benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
6 Paternal (confirmed) g.18130989A>T g.18130758A>T - - TPMT_000370 discovered using exome sequencing; intermediate RBC TPMT activity 8.9U/ml (normal 9.3–17.6U/ml) PubMed: Roberts 2014 - rs398122996 Germline yes - - 0 - Johan den Dunnen TPMT ?/. - - - - - 9 NM_000367.2:c.648T>A TPMT*37 VUS r.(?) p.(Cys216*) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18139214G>A g.18138983G>A rs2842934 - TPMT_000011 variant from TPMT*1S haplotype PubMed: Roberts 2014 - rs2842934 Unknown - - - 0 - Johan den Dunnen TPMT -?/. - - - - - 6 NM_000367.2:c.474C= - likely benign r.(?) p.(Ile158=) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18143769A>G g.18143538A>G rs2518463 - TPMT_000035 - PubMed: Roberts 2014 - rs2518463 Unknown - - - 0 - Johan den Dunnen TPMT -?/. - - - - - 4i NM_000367.2:c.366+58T>C - likely benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18148019G>A g.18147788G>A rs4449636 - TPMT_000016 - PubMed: Roberts 2014 - rs4449636 Unknown - - - 0 - Johan den Dunnen TPMT +?/. - - - - - 3i NM_000367.2:c.233+35C>T - likely risk r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18148247T>A g.18148016T>A rs12529220 - TPMT_000034 - PubMed: Roberts 2014 - rs12529220 Unknown - - - 0 - Johan den Dunnen TPMT -?/. - - - - - 2i NM_000367.2:c.141-101A>T - likely benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18149526C>T g.18149295C>T rs3930696 - TPMT_000006 - PubMed: Roberts 2014 - rs3930696 Unknown - - - 0 - Johan den Dunnen TPMT -?/. - - - - - 1i NM_000367.2:c.-44-124G>A - likely benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
Legend