Variant #0000048439 (NC_000006.11:g.18143955C>G, TPMT(NM_000367.2):c.238G>C)

Individual ID 00025522
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.18143955C>G
DNA change (hg38) g.18143724C>G
Published as -
ISCN -
DB-ID TPMT_000020 See all 22 reported entries
Variant remarks 100x reduced TPMT catalytic activity
Reference PubMed: Krynetski 1995, OMIM:var0001
ClinVar ID -
dbSNP ID rs1800462
Origin Germline
Segregation -
Frequency -
Re-site CviRI-
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00172 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TPMT NM_000367.2 +/. 4 c.238G>C TPMT*2 r.238g>c p.Ala80Pro



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025526 DNA;RNA RT-PCR;SEQ - - TPMT 1 Johan den Dunnen