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 International |
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) |

Variant on transcripts
Screenings
|