Individual #00020479

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases HMGM, 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     
0000013144 45y - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013145 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006549 DNA SEQ 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 Paternal (inferred) +/+ g.10183764A>C Qi et al (2013) VHL_000025 rs5030804 - Germline ? - - - Despoina Kalfakakou VHL - NM_000551.3:c.233A>C, NM_198156.2:c.233A>C r.(?) p.(Asn78Thr)
Legend