Individual #00016437

Reference -
Gender F
Geographic origin Ukraine
Geographic origin -
Population Ukrainian
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     
0000008514 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005036 DNA MLPA 0 BRCA1, BRCA2, CHEK2 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     
22 Parent #2 +/+ g.29092559_29097953del - CHEK2_000086 - - Germline ? CHEK2 exons 8-9 deletion (5395del) - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1037+1540_1224+330del, NM_001257387.1:c.245+1540_432+330del, NM_007194.3:c.908+1540_1095+330del, NM_145862.2:c.908+1540_1009-698del r.(?) p.(Met347Leufs*16), p.(Met83Leufs*16), p.(Met304Leufs*16)
Legend