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
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