Variant #0000760905 (NC_000017.10:g.17131431_17131435del, FLCN(NM_144997.5):c.17_21del)

Individual ID 00359570
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17131431_17131435del
DNA change (hg38) g.17228117_17228121del
Published as -
ISCN -
DB-ID FLCN_000207 See all 2 reported entries
Variant remarks -
Reference PubMed: McDermott 2018
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 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 +?/. 4 c.17_21del r.(?) p.(Ala6Valfs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360798 DNA SEQ - - FLCN 1 Kenki Matsumoto