Variant #0000642687 (NC_000017.10:g.17129568G>C, FLCN(NM_144997.5):c.318C>G)
Individual ID |
00285800 |
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.17129568G>C |
DNA change (hg38) |
g.17226254G>C |
Published as |
- |
ISCN |
- |
DB-ID |
FLCN_000226 |
Variant remarks |
- |
Reference |
PubMed: Benusiglio et al. 2014 |
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 |

Variant on transcripts
Screenings
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