Variant #0000174393 (NC_000017.10:g.17131449del, FLCN(NM_144997.5):c.3del)
Individual ID |
00107980 |
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.17131449del |
DNA change (hg38) |
g.17228135del |
Published as |
458delG |
ISCN |
- |
DB-ID |
FLCN_000002 |
Variant remarks |
mutation in start codon. Predicted no translation. Previously reported as c.458delG. |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |
Database submission license |
No license selected |
Created by |
Derek Lim |

Variant on transcripts
Screenings
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