Individual #00014919

Reference -
Gender F
Geographic origin Thessaloniki
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000010457 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005414 DNA SEQ-NG-I 1 - 2 Despoina Kalfakakou



Variants

2 entries on 1 page. Showing entries 1 - 2.
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.29092917G>A - CHEK2_000044 rs137853011 - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1196C>T, NM_001257387.1:c.404C>T, NM_007194.3:c.1067C>T, NM_145862.2:c.1009-1056C>T r.(?), r.(=) p.(Ser399Leu), p.(Ser135Leu), p.(Ser356Leu), p.(=)
22 Parent #2 +?/+? g.29121008C>G - CHEK2_000080 rs745646057 - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.678G>C, NM_001257387.1:c.-229G>C, NM_007194.3:c.549G>C, NM_145862.2:c.549G>C r.(=), r.(?) p.(Leu226Phe), p.(=), p.(Leu183Phe)
Legend