Variant #0000063051 (NC_000017.10:g.17135176G>A, NM_144997.5:c.-93C>T (FLCN))
| Individual ID |
00035856 |
| Chromosome |
17 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.17135176G>A |
| DNA change (hg38) |
g.17231862G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
FLCN_000160 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs115413827 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
MAF 0.02 |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| 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 |
2016-11-12 11:03:31 +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.
|