Variant #0000048891 (NC_000006.11:g.18130918T>C, TPMT(NM_000367.2):c.719A>G)

Individual ID 00025872
Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.18130918T>C
DNA change (hg38) g.18130687T>C
Published as -
ISCN -
DB-ID TPMT_000031 See all 114 reported entries
Variant remarks reference haplotype TPMT*3E; reduced activity
Reference -
ClinVar ID -
dbSNP ID rs1142345
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03661 View details
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 -?/. 9 c.719A>G TPMT*3E r.(?) p.(Tyr240Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025874 DNA SEQ - - TPMT 6 Johan den Dunnen