Variant #0000174487 (NC_000017.10:g.17130229T>C, FLCN(NM_144997.5):c.229+994A>G)

Individual ID 00107973
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.17130229T>C
DNA change (hg38) g.17226915T>C
Published as -228+994C>T
ISCN -
DB-ID FLCN_000092
Variant remarks Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID rs41337846
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 -/- 1i c.229+994A>G r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108440 DNA ? - - FLCN 1 Johan den Dunnen