Variant #0000643897 (NC_000017.10:g.17131398_17131399del, FLCN(NM_144997.5):c.57_58del)

Individual ID 00286930
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.17131398_17131399del
DNA change (hg38) g.17228084_17228085del
Published as -
ISCN -
DB-ID FLCN_000209 See all 5 reported entries
Variant remarks -
Reference PubMed: Skolnik et al. 2016
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 Derek Lim
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.57_58del r.(?) p.(Phe20Leufs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000288094 DNA ? - - FLCN 1 Derek Lim