Variant #0000410580 (NC_000006.11:g.18143955C>G, NM_000367.2:c.238G>C (TPMT))

Individual ID 00184172
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 intermediate metabolizer
Reference IP3 project, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00172 View details
Owner Jesse Swen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-10-27 20:13:16 +02:00 (CEST)
Date last edited 2018-12-19 15:39:30 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TPMT NM_000367.2 +/. 4 c.238G>C TPMT*1/*2 r.(238g>c) p.(Ala80Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185139 DNA arraySNP;PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 - 9 Jesse Swen


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