Genomic variant #0000048493

Individual ID 00025576
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.18139228C>T
DNA change (hg38) g.18138997C>T
Published as -
ISCN -
DB-ID TPMT_000030 See all 83 reported entries
Variant remarks -
Reference PubMed: Colombel 2000
ClinVar ID -
dbSNP ID rs1800460
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02822 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TPMT NM_000367.2 +/. 6 c.460G>A TPMT*3A risk r.(?) p.(Ala154Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025580 DNA SEQ - - TPMT 2 Johan den Dunnen