Variant #0000174555 (NC_000017.10:g.17139885_17145573delinsCCATGGGGG, FLCN(NM_144997.5):c.-5575_-228+341delinsCCCCCATGG)

Individual ID 00108128
Chromosome 17
Allele Parent #1
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.17139885_17145573delinsCCATGGGGG
DNA change (hg38) g.17236571_17242259delinsCCATGGGGG
Published as hg18 g.17080610_17086298del
ISCN -
DB-ID FLCN_000179
Variant remarks -
Reference PubMed: Benhammou 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +/+ _1_1i c.-5575_-228+341delinsCCCCCATGG r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108595 DNA MLPA;arrayCGH;SEQ - - FLCN 1 Johan den Dunnen