Individual #00015244

Reference -
Gender F
Geographic origin Thessaloniki
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     
0000011458 35y - - - - Despoina Kalfakakou
0000011459 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005591 DNA SEQ-NG-I 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 (confirmed) +?/+? g.7574006A>C   Fostira et al (2020) Kato et al (2003) TP53_000036 - - Germline ? - - - Despoina Kalfakakou TP53 - NM_000546.5:c.1021T>G, NM_001126112.2:c.1021T>G, NM_001126113.2:c.*40T>G, NM_001126114.2:c.*128T>G, NM_001126115.1:c.625T>G, NM_001126116.1:c.*128T>G, NM_001126117.1:c.*40T>G, NM_001126118.1:c.904T>G, NM_001276695.1:c.*40T>G, NM_001276696.1:c.*128T>G, NM_001276697.1:c.544T>G, NM_001276698.1:c.*128T>G, NM_001276699.1:c.*40T>G, NM_001276760.1:c.904T>G, NM_001276761.1:c.904T>G r.(?), r.(=) p.(Phe341Val), p.(=), p.(Phe209Val), p.(Phe182Val), p.(Phe302Val)
Legend