Individual #00020492

Reference -
Gender F
Geographic origin Kalampaki, Drama
Geographic origin Nikisiani, Kavala
Population Greek
Consanguinity no
Remarks -
Panel ID 00020491
Panel size 9
Diseases BBT, PanLes
Owner name Despoina Kalfakakou


Phenotypes

Benign brain tumor (BBT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012877 24y - - - Despoina Kalfakakou

Pancreatic lesions (PanLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012878 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006562 DNA SEQ 0 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 Maternal (confirmed) +/+ g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - Despoina Kalfakakou VHL - NM_000551.3:c.350G>A, NM_198156.2:c.341-3264G>A r.(?), r.(=) p.(Trp117*), p.(=)
Legend