Variant #0000784668 (NC_000017.10:g.(17136216_17140225)_(17140502_?)del, FLCN(NM_144997.5):c.(?-504)_(-228+1_-227-1)del)

Individual ID 00372755
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(17136216_17140225)_(17140502_?)del
DNA change (hg38) -
Published as exon 1 deletion
ISCN -
DB-ID FLCN_000181 See all 3 reported entries
Variant remarks -
Reference PubMed: Liu et al 2019
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 Kenki Matsumoto
Database submission license No license selected
Created by Derek Lim
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +?/+? 1 c.(?-504)_(-228+1_-227-1)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373988 DNA MLPA - - FLCN 1 Kenki Matsumoto