Variant #0000048555 (NC_000006.11:g.18148068C>T, NM_000367.2:c.219G>A (TPMT))

Individual ID 00025638
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.18148068C>T
DNA change (hg38) g.18147837C>T
Published as Ala73Ala
ISCN -
DB-ID TPMT_000009
Variant remarks -
Reference PubMed: Skrzypczak-Zielinska 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 1/548
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-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
Date created 2013-01-26 16:51:12 +01:00 (CET)
Date last edited 2014-12-19 10:54:59 +01:00 (CET)
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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.219G>A - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025642 DNA MCA;SEQ - - TPMT 1 Johan den Dunnen


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