Variant #0000148856 (NC_000017.10:g.17131451C>T, FLCN(NM_144997.5):c.1G>A)

Individual ID 00090582
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17131451C>T
DNA change (hg38) g.17228137C>T
Published as -
ISCN -
DB-ID FLCN_000168
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference Thibodeau lab (Mayo Clinic)
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 Melissa DeRycke
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 ./. - c.1G>A - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090727 DNA SEQ-NG-I blood - FLCN 1 Melissa DeRycke