Individual #00017316

Reference -
Gender F
Geographic origin Vyroneia, Serres
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00017312
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     
0000009753 32y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000003453 DNA SEQ 0 BRIP1, PALB2 2 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     
16 Paternal (confirmed) +/+ g.23641218G>A [Vagena et al. 2019] PALB2_000012 rs180177110 - Germline ? - - Yes Despoina Kalfakakou PALB2 - NM_024675.3:c.2257C>T r.(?) p.(Arg753*)
17 Maternal (confirmed) +/+ g.59821908C>T - BRIP1_000036 rs1567781516 - Germline ? - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2142G>A r.(?) p.(Trp714*)
Legend