Variant #0000063051 (NC_000017.10:g.17135176G>A, FLCN(NM_144997.5):c.-93C>T)

Individual ID 00035856
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17135176G>A
DNA change (hg38) g.17231862G>A
Published as -
ISCN -
DB-ID FLCN_000160
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs115413827
Origin Germline
Segregation -
Frequency MAF 0.02
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 -/. 1 c.-93C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035926 DNA SEQ - - FLCN 1 Andreas Laner