Individual #00020513

Reference -
Gender M
Geographic origin Pontokomi, Kozani
Geographic origin Kordelio, Thessaloniki
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases ADNM, Pheo, RCC
Owner name Despoina Kalfakakou


Phenotypes

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012966 36y - - - Despoina Kalfakakou

Pheochromocytoma, susceptibility to (Pheo)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012967 24y - - - Despoina Kalfakakou

Adenoma (ADNM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012968 32y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006582 DNA SEQ 1 VHL 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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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 (inferred) +/+ g.10191563G>T Zbar et al (1996) VHL_000032 rs367545984 - Germline ? - - - Despoina Kalfakakou VHL - NM_000551.3:c.556G>T, NM_198156.2:c.433G>T r.(?) p.(Glu186*), p.(Glu145*)
Legend