Individual #00015407

Reference -
Gender F
Geographic origin Epirus
Geographic origin Crete
Population Greek
Consanguinity no
Remarks -
Panel size 5
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     
0000011779 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004695 DNA SEQ 1 CHEK2 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     
22 Maternal (confirmed) +/+ g.29130610G>A - CHEK2_000068 rs1231012263 - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.100C>T, NM_001257387.1:c.-678C>T, NM_007194.3:c.100C>T, NM_145862.2:c.100C>T r.(=), r.(?) p.(=), p.(Gln34*)
Legend