Variant #0000048925 (NC_000006.11:g.18143949G>A, TPMT(NM_000367.2):c.244C>T)

Individual ID 00025903
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.18143949G>A
DNA change (hg38) g.18143718G>A
Published as -
ISCN -
DB-ID TPMT_000340 See all 2 reported entries
Variant remarks reference haplotype TPMT*34
Reference -
ClinVar ID -
dbSNP ID rs111901354
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 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 +?/. 4 c.244C>T TPMT*34 r.(?) p.(Arg82Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025905 DNA SEQ - - TPMT 1 Johan den Dunnen