Variant #0000834524 (NC_000017.10:g.79990310T>C, NM_005052.2:c.83T>C (RAC3))
| Individual ID |
00400075 |
| Chromosome |
17 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.79990310T>C |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
RAC3_000002 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Marcello Scala |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Marcello Scala |
| Date created |
2022-01-24 13:03:52 +01:00 (CET) |
| Date last edited |
2022-01-24 13:28:45 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|