Individual #00020575

Reference -
Gender F
Geographic origin Volos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BBT, HMGM, PanLes, RCC, RenLes
Owner name Despoina Kalfakakou


Phenotypes

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013113 50y - - - Despoina Kalfakakou

Benign brain tumor (BBT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013116 49y - - - Despoina Kalfakakou

Pancreatic lesions (PanLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013117 49y - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013115 29y - - - Despoina Kalfakakou

Kidney lesions (RenLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013114 25y - - - Despoina Kalfakakou
0000013118 50y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007090 DNA MLPA 1 VHL 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     
3 Parent #2 +/+ g.(10183453_10183569)_(10183988_10187800)del - VHL_000038 - HGVS description is probe-based. Germline - VHL exon 1 deletion - - Despoina Kalfakakou VHL 1, NM_000551.3:c.(?), NM_198156.2:c.(?) r.(?) p.(?)
Legend