Variant #0000174396 (NC_000017.10:g.17131215_17131218del, NM_144997.5:c.235_238del (FLCN))
| Individual ID |
00107987 |
| 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.17131215_17131218del |
| DNA change (hg38) |
g.17227901_17227904del |
| Published as |
690-3delTCGG |
| ISCN |
- |
| DB-ID |
FLCN_000005 |
| Variant remarks |
- |
| Reference |
- |
| 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 |
No license selected |
| Created by |
Derek Lim |
| Date created |
2009-02-23 00:00:00 +01:00 (CET) |
| Date last edited |
2020-07-13 10:31:16 +02:00 (CEST) |

Variant on transcripts
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