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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +/+ 4 c.3del r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108447 DNA ? - - FLCN 1 Johan den Dunnen