Variant #0000174464 (NC_000017.10:g.17131515T>C, FLCN(NM_144997.5):c.1-64A>G)

Individual ID 00107978
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17131515T>C
DNA change (hg38) g.17228201T>C
Published as rs8069957
ISCN -
DB-ID FLCN_000069
Variant remarks observed with another pathogenic mutation
Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
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 -/- 3i c.1-64A>G r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108445 DNA ? - - FLCN 2 Derek Lim