Individual #00020823

Reference -
Gender F
Geographic origin Corfu
Geographic origin Potamia, Arcadia
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BBT, HypPT, 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     
0000012627 24y - - - Despoina Kalfakakou

Pancreatic lesions (PanLes)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012629 39y - - - Despoina Kalfakakou

Hyperparathyroidism (HypPT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012628 25y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006753 DNA SEQ 1 MEN1 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     
11 Maternal (inferred) +/+ g.64572261G>A - MEN1_000038 rs104894267 - Germline ? - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1393C>T, NM_130799.2:c.1378C>T, NM_130800.2:c.1393C>T, NM_130801.2:c.1393C>T, NM_130802.2:c.1393C>T, NM_130803.2:c.1393C>T, NM_130804.2:c.1393C>T r.(?) p.(Arg465*), p.(Arg460*)
Legend