Individual #00020536

Reference -
Gender F
Geographic origin Drepano, Nafplion
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00020533
Panel size 14
Diseases BBT, RenLes
Owner name Despoina Kalfakakou


Phenotypes

Benign brain tumor (BBT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013016 16y - - - Despoina Kalfakakou

Kidney lesions (RenLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013017 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006965 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 Paternal (confirmed) +/+ g.10183738_10183739del - VHL_000036 - - Germline ? - - - Despoina Kalfakakou VHL - NM_000551.3:c.207_208del, NM_198156.2:c.207_208del r.(?) p.(Glu70Alafs*61), p.(Glu70Alafs*62)
Legend