Variant #0000336339 (NC_000017.10:g.17129566_17129567delinsGTG, FLCN(NM_144997.5):c.319_320delinsCAC)
Individual ID |
00151422 |
Chromosome |
17 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.17129566_17129567delinsGTG |
DNA change (hg38) |
g.17226252_17226253delinsGTG |
Published as |
- |
ISCN |
- |
DB-ID |
FLCN_000008 See all 9 reported entries |
Variant remarks |
- |
Reference |
Vernooij et al submitted |
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 |
Michel van Geel |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Michel van Geel |

Variant on transcripts
Screenings
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