Individual #00020506

Reference -
Gender F
Geographic origin Amaliada
Geographic origin Canada
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases HMGM, RenLes, SCT
Owner name Despoina Kalfakakou


Phenotypes

Spinal cord tumor (SCT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012952 - - - - Despoina Kalfakakou

Hemangioma  (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012949 9y - - - Despoina Kalfakakou
0000012950 22y - - - Despoina Kalfakakou

Kidney lesions (RenLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012951 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006575 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 Maternal (inferred) +/+ g.10183863G>A Ong et al (2007) VHL_000030 rs869025631 - Germline ? - - - Despoina Kalfakakou VHL - NM_000551.3:c.332G>A, NM_198156.2:c.332G>A r.(?) p.(Ser111Asn)
Legend