Individual #00016422

Reference -
Gender F
Geographic origin Nafpaktia
Geographic origin Mani
Population Greek
Consanguinity no
Remarks -
Panel ID 00016421
Panel size 1
Diseases BrCa, PFTC
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     
0000008492 43y - - - - Despoina Kalfakakou

Fallopian Tube Cancer (PFTC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008493 47y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005034 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.41244172_41244173del - BRCA1_000005 rs80357828 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3375_3376del, NM_007297.3:c.3234_3235del, NM_007298.3:c.788-1124_788-1123del, NM_007299.3:c.788-1124_788-1123del, NM_007300.3:c.3375_3376del r.(?), r.(=) p.(Pro1126Ilefs*6), p.(Pro1079Ilefs*6), p.(=)
Legend