Individual #00017407

Reference -
Gender F
Geographic origin Tinos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00017404
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     
0000009872 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000003492 DNA SEQ 0 BRCA1 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 Paternal (confirmed) +?/+? g.41219642T>C - BRCA1_000094 rs730882166 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5057A>G, NM_007297.3:c.4916A>G, NM_007298.3:c.1745A>G, NM_007299.3:c.1745A>G, NM_007300.3:c.5120A>G r.(?) p.(His1686Arg), p.(His1639Arg), p.(His582Arg), p.(His1707Arg)
Legend