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
Screenings
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