Variant #0000174556 (NC_000017.10:g.17139772_17146542delins17143653_17143777inv, FLCN(NM_144997.5):c.-6544_-228+454delins-3779_-3655inv)

Individual ID 00108129
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.17139772_17146542delins17143653_17143777inv
DNA change (hg38) -
Published as hg18 17080497_17087267del;17084378_17084502invins
ISCN -
DB-ID FLCN_000180
Variant remarks -
Reference PubMed: Benhammou 2011
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 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.-6544_-228+454delins-3779_-3655inv r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108596 DNA MLPA;arrayCGH;SEQ - - FLCN 1 Johan den Dunnen