Variant #0000642679 (NC_000017.10:g.17131238del, FLCN(NM_144997.5):c.214del)

Individual ID 00285791
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.17131238del
DNA change (hg38) g.17227924del
Published as -
ISCN -
DB-ID FLCN_000218
Variant remarks -
Reference PubMed: Liu et al. 2017
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 Derek Lim
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.214del r.(?) p.(Ser72Alafs*58)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286946 DNA ? - - FLCN 1 Derek Lim