Individual #00021053

Reference -
Gender F
Geographic origin Drama
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000013633 55y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007180 DNA SEQ-NG 1 - 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 Maternal (inferred) +/+ g.41245592_41245595del - BRCA1_000175 rs80357526 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1953_1956del, NM_007297.3:c.1812_1815del, NM_007298.3:c.787+1166_787+1169del, NM_007299.3:c.787+1166_787+1169del, NM_007300.3:c.1953_1956del r.(?), r.(=) p.(Lys653Serfs*47), p.(Lys606Serfs*47), p.(=)
Legend