Genomic variant #0000048482

Individual ID 00025565
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.18130918T>C
DNA change (hg38) g.18130687T>C
Published as -
ISCN -
DB-ID TPMT_000031 See all 114 reported entries
Variant remarks -
Reference PubMed: Kurzawski 2005, OMIM:var0005
ClinVar ID -
dbSNP ID rs1142345
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.04543 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 +/. 9 c.719A>G TPMT*3C risk r.(?) p.(Tyr240Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025569 DNA SEQ - - TPMT 3 Johan den Dunnen