Variant #0000022805 (NC_000001.10:g.230846278C>T, NM_000029.3:c.319G>A (AGT))
| Individual ID |
00004024 |
| Chromosome |
1 |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.230846278C>T |
| DNA change (hg38) |
g.230710532C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
AGT_000005 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Gibrouval 2012 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
| Owner |
Olivier Gribouval |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2011-10-24 15:34:06 +02:00 (CEST) |
| Date last edited |
2011-10-24 22:05:20 +02:00 (CEST) |

Variant on transcripts
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