Variant #0000048429 (NC_000006.11:g.18155368_18155454=, NM_000367.2:c.-235_-149= (TPMT))
| Individual ID |
00025515 |
| Chromosome |
6 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18155368_18155454= |
| DNA change (hg38) |
g.18155137_18155223= |
| Published as |
6 repeat units |
| ISCN |
- |
| DB-ID |
TPMT_000000 See all 4 reported entries |
| Variant remarks |
larger repeats have small negative effect on promoter activity |
| Reference |
PubMed: Yan 2000 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
25/558 chromosomes |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2012-09-23 20:52:13 +02:00 (CEST) |
| Date last edited |
2013-01-05 10:05:43 +01:00 (CET) |

Variant on transcripts
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