Individual #00016101

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000008024 36y - - - - Despoina Kalfakakou
0000008025 29y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004938 DNA SEQ 1 BRCA1, BRCA2 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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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.41234451G>A - BRCA1_000011 rs41293455 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4327C>T, NM_007297.3:c.4186C>T, NM_007298.3:c.1018C>T, NM_007299.3:c.1018C>T, NM_007300.3:c.4327C>T r.(?) p.(Arg1443*), p.(Arg1396*), p.(Arg340*)
Legend