Individual #00014719

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, CC, OVCA
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     
0000007901 61y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000007902 61y - - N/A - Despoina Kalfakakou

Cervical cancer (CC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000007903 61y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001080 DNA SEQ 1 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 Parent #2 +/+ g.41199693G>C [Stavropoulou et al. 2013] BRCA1_000017 rs1800751 - Germline - Exon 23 skipping - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5434C>G, NM_007297.3:c.5293C>G, NM_007298.3:c.2122C>G, NM_007299.3:c.2048C>G, NM_007300.3:c.5497C>G r.(?) p.(Pro1812Ala), p.(Pro1765Ala), p.(Pro708Ala), p.(Ala683Gly), p.(Pro1833Ala)
Legend