Variant #0000048893 (NC_000006.11:g.18148247T>A, TPMT(NM_000367.2):c.141-101A>T)

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.18148247T>A
DNA change (hg38) g.18148016T>A
Published as -
ISCN -
DB-ID TPMT_000034 See all 3 reported entries
Variant remarks reference haplotype TPMT*3E
Reference -
ClinVar ID -
dbSNP ID rs12529220
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
TPMT NM_000367.2 -?/. 2i c.141-101A>T TPMT*3E r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025874 DNA SEQ - - TPMT 6 Johan den Dunnen