Individual #00015304

Reference -
Gender F
Geographic origin Sitia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 6
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     
0000011584 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004632 DNA MLPA 0 BRCA1, BRCA2 1 Despoina Kalfakakou
0000005311 DNA SEQ 1 ATM 1 Despoina Kalfakakou



Variants

2 entries on 1 page. Showing entries 1 - 2.
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 Paternal (confirmed) +/+ g.108151895G>A Sandoval et al (1999)  Fostira et al (2020) ATM_000061 rs587776551 - Germline ? - - - Despoina Kalfakakou ATM - NM_000051.3:c.3576G>A r.(=) p.(=)
13 Maternal (confirmed) +/+ g.(32890665_32893213)_(32893463_32899212)del - BRCA2_000316 - - Germline ? BRCA2 exon 3 deletion - - Despoina Kalfakakou BRCA2 3 NM_000059.3:c.(67+1_68-1)_(316+1_317-1)del r.(?) p.(?)
Legend