Variant #0000174535 (NC_000017.10:g.17137782_17144173del, FLCN(NM_144997.5):c.-4174_-227-1566del)

Individual ID 00107968
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.17137782_17144173del
DNA change (hg38) g.17234468_17240859del
Published as hg18 g.17078506_17084897del
ISCN -
DB-ID FLCN_000138
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 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_1i c.-4174_-227-1566del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108435 DNA arrayCGH;MLPA;SEQ - - FLCN 1 Johan den Dunnen