Variant #0000048452 (NC_000006.11:g.18149358T>C, TPMT(NM_000367.2):c.1A>G)

Individual ID 00025535
Chromosome 6
Allele Paternal (confirmed)
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.18149358T>C
DNA change (hg38) g.18149127T>C
Published as Met1Val
ISCN -
DB-ID TPMT_000140 See all 3 reported entries
Variant remarks -
Reference PubMed: Lindqvist 2004
ClinVar ID -
dbSNP ID rs9333569
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/. 2 c.1A>G TPMT*14 r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025539 DNA SEQ - - TPMT 3 Johan den Dunnen