Screening #0000025580

Individual ID 00025576
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TPMT thiopurine S-methyltransferase 6 p22.3 1 386 65 2018-12-19 TPMT



Variants found

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

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: Colombel 2000 - rs1142345 Germline - - - 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: Colombel 2000 - rs1800460 Germline - - - 0 - Johan den Dunnen TPMT - - - - - 6 NM_000367.2:c.460G>A TPMT*3A risk r.(?) p.(Ala154Thr) - - - - - - - - - - - - - - - - - - -
Legend