Variant #0000760915 (NC_000017.10:g.17131398_17131399del, NM_144997.5:c.57_58del (FLCN))
| Individual ID |
00359583 |
| 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.17131398_17131399del |
| DNA change (hg38) |
g.17228084_17228085del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
FLCN_000209 See all 5 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Liu et al. 2019 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Kenki Matsumoto |
| Database submission license |
No license selected |
| Created by |
Derek Lim |
| Date created |
2021-03-26 11:31:16 +01:00 (CET) |
| Date last edited |
2021-03-29 09:39:20 +02:00 (CEST) |

Variant on transcripts
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