Variant #0000062308 (NC_000003.11:g.8775526G>A, NM_033337.2:c.-37G>A (CAV3))
| Individual ID |
00035119 |
| Chromosome |
3 |
| Allele |
Parent #1 |
| 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.8775526G>A |
| DNA change (hg38) |
g.8733840G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
CAV3_000050 See all 5 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs116840771 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00283 View details |
| Owner |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2015-04-02 13:01:39 +02:00 (CEST) |
| Date last edited |
2016-06-24 19:53:43 +02:00 (CEST) |

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