Variant #0000410580 (NC_000006.11:g.18143955C>G, NM_000367.2:c.238G>C (TPMT))
| Individual ID |
00184172 |
| 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.18143955C>G |
| DNA change (hg38) |
g.18143724C>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TPMT_000020 See all 22 reported entries |
| Variant remarks |
intermediate metabolizer |
| Reference |
IP3 project, submitted |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00172 View details |
| Owner |
Jesse Swen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-10-27 20:13:16 +02:00 (CEST) |
| Date last edited |
2018-12-19 15:39:30 +01:00 (CET) |

Variant on transcripts
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