Variant #0000761135 (NC_000017.10:g.17129537_17129554del, FLCN(NM_144997.5):c.332_349del)

Individual ID 00359793
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.17129537_17129554del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FLCN_000141 See all 6 reported entries
Variant remarks -
Reference PubMed: Furuya et al. 2012
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 Kenki Matsumoto
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 +/+ 5 c.332_349del r.(?) p.(His111_Gln116del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000361022 DNA ? - - FLCN 1 Kenki Matsumoto