Genomic variant #0000048440

Individual ID 00025523
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.18148141A>G
DNA change (hg38) g.18147910A>G
Published as -
ISCN -
DB-ID TPMT_000050 See all 4 reported entries
Variant remarks -
Reference PubMed: Otterness 1997
ClinVar ID -
dbSNP ID rs72552740
Origin Germline
Segregation -
Frequency 1/29 samples
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 +/. 3 c.146T>C TPMT*5 risk r.(?) p.(Leu49Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025527 DNA SEQ - - TPMT 1 Johan den Dunnen