Individual #00015332

Reference -
Gender F
Geographic origin Phthiotis
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000011630 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004650 DNA SEQ 0 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.41243793_41243796del - BRCA1_000003 rs80357868 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3752_3755del, NM_007297.3:c.3611_3614del, NM_007298.3:c.788-747_788-744del, NM_007299.3:c.788-747_788-744del, NM_007300.3:c.3752_3755del r.(?), r.(=) p.(Ser1253Argfs*10), p.(Ser1206Argfs*10), p.(=)
Legend