Individual #00015988

Reference -
Gender F
Geographic origin Chrisomilia, Kalabaka
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000007877 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005323 DNA SEQ-NG 1 - 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.29091177T>C - CHEK2_000046 - - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1442A>G, NM_001257387.1:c.650A>G, NM_007194.3:c.1313A>G, NM_145862.2:c.1226A>G r.(?) p.(Asp481Gly), p.(Asp217Gly), p.(Asp438Gly), p.(Asp409Gly)
Legend