Variant #0000761049 (NC_000017.10:g.17129638T>C, FLCN(NM_144997.5):c.250-2A>G)

Individual ID 00359705
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.17129638T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID FLCN_000049 See all 5 reported entries
Variant remarks -
Reference PubMed: Toro et al. 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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 +/+ 4i c.250-2A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360935 DNA ? - - FLCN 1 Kenki Matsumoto