Variant #0000174556 (NC_000017.10:g.17139772_17146542delins17143653_17143777inv, NC_000017.10(NM_144997.5):c.-6544_-228+454delins-3779_-3655inv (FLCN))
| Individual ID |
00108129 |
| 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.17139772_17146542delins17143653_17143777inv |
| DNA change (hg38) |
- |
| Published as |
hg18 17080497_17087267del;17084378_17084502invins |
| ISCN |
- |
| DB-ID |
FLCN_000180 |
| Variant remarks |
- |
| Reference |
PubMed: Benhammou 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2017-07-21 11:28:06 +02:00 (CEST) |
| Date last edited |
2021-02-22 09:47:51 +01:00 (CET) |

Variant on transcripts
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