Genomic variant #0000048473

Individual ID 00025556
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.18143844C>G
DNA change (hg38) g.18143613C>G
Published as 349G>A
ISCN -
DB-ID TPMT_000280 See all 2 reported entries
Variant remarks suggested residual TPMT activity
Reference PubMed: Landy 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
TPMT NM_000367.2 +/. 4 c.349G>C TPMT*28 risk r.(?) p.(Gly117Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025560 DNA SEQ - - TPMT 3 Johan den Dunnen