Variant #0000761017 (NC_000017.10:g.17129566_17129567delinsGTG, NM_144997.5:c.319_320delinsCAC (FLCN))
| Individual ID |
00359673 |
| Chromosome |
17 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.17129566_17129567delinsGTG |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
FLCN_000008 See all 9 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Toro 2008 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Derek Lim |
| Database submission license |
No license selected |
| Created by |
Derek Lim |
| Date created |
2021-04-03 18:57:54 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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