Variant #0000048498 (NC_000006.11:g.18149276T>A, TPMT(NM_000367.2):c.83A>T)

Individual ID 00025581
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.18149276T>A
DNA change (hg38) g.18149045T>A
Published as -
ISCN -
DB-ID TPMT_000130 See all 3 reported entries
Variant remarks 57% TPMT clearance
Reference PubMed: Hamdan-Khalil 2003
ClinVar ID -
dbSNP ID rs72552742
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TPMT NM_000367.2 +/. 2 c.83A>T TPMT*13 r.(?) p.(Glu28Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025585 DNA SEQ - - TPMT 1 Johan den Dunnen