Variant #0000048455 (NC_000006.11:g.18148076C>T, TPMT(NM_000367.2):c.211G>A)

Individual ID 00025538
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.18148076C>T
DNA change (hg38) g.18147845C>T
Published as -
ISCN -
DB-ID TPMT_000180 See all 4 reported entries
Variant remarks -
Reference PubMed: Schaeffeler 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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 +/. 3 c.211G>A TPMT*18 r.(?) p.(Gly71Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025542 DNA SEQ - - TPMT 1 Johan den Dunnen