Individual #00017420

Reference -
Gender F
Geographic origin Constantinople
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00017419
Panel size 3
Diseases BrCa, ENC
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     
0000009884 38y - - - - Despoina Kalfakakou

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009885 55y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000003499 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 Maternal (inferred) +/+ g.41222949_41222967del - BRCA1_000019 rs80359876 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4964_4982del, NM_007297.3:c.4823_4841del, NM_007298.3:c.1652_1670del, NM_007299.3:c.1652_1670del, NM_007300.3:c.5027_5045del r.(?) p.(Ser1655Tyrfs*16), p.(Ser1608Tyrfs*16), p.(Ser551Tyrfs*16), p.(Ser1676Tyrfs*16)
Legend