Variant #0000632624 (NC_000017.10:g.17131387G>T, FLCN(NM_144997.5):c.65C>A)

Individual ID 00276359
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.17131387G>T
DNA change (hg38) g.17228073G>T
Published as -
ISCN -
DB-ID FLCN_000210
Variant remarks -
Reference PubMed: Furuya et al. 2016
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.65C>A r.(?) p.(Thr22Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277505 DNA ? - - FLCN 1 Derek Lim