Individual #00016779

Reference -
Gender F
Geographic origin Andritsaina, Mani
Geographic origin Kourtaki, Argos
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, ColPol, MNGM
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     
0000009022 57y - - - - Despoina Kalfakakou
0000009023 43y - - - - Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009024 48y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005115 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.41209134C>T [Konstantopoulou et al. 2013][Anagnostopoulos et al. 2008], [Armaou et al 2009] BRCA1_000049 rs80356937 - Germline ? - Macedonia, Epirus, Western Greece Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5212G>A, NM_007297.3:c.5071G>A, NM_007298.3:c.1900G>A, NM_007299.3:c.1900G>A, NM_007300.3:c.5275G>A r.(?) p.(Gly1738Arg), p.(Gly1691Arg), p.(Gly634Arg), p.(Gly1759Arg)
Legend