Individual #00021512

Reference -
Gender F
Geographic origin Xanthi, Pomaks
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013380 44y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007422 DNA SEQ 1 BRCA1 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     
17 Paternal (confirmed) +/+ g.41256251dupT - BRCA1_000225 rs80357604 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.329dupA, NM_007297.3:c.188dupA, NM_007298.3:c.329dupA, NM_007299.3:c.329dupA, NM_007300.3:c.329dupA r.(?) p.(Glu111Glyfs*3), p.(Glu64Glyfs*3)
Legend