Individual #00020487

Reference -
Gender M
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases FibFol, LunLes
Owner name Despoina Kalfakakou


Phenotypes

Fibrofolliculomas (FibFol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012766 - - - - Despoina Kalfakakou

Lung lesions (LunLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012765 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006557 DNA SEQ 1 FLCN 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
17 Maternal (inferred) +/+ g.17124437_17124438insG - FLCN_000057 - - Germline ? - - - Despoina Kalfakakou FLCN - NM_144606.5:c.1284_1285insC, NM_144997.5:c.871+413_871+414insC r.(?) p.H429fs, p.(?)
Legend