Individual #00016342

Reference -
Gender F
Geographic origin Thebes
Geographic origin Zante
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     
0000008381 28y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000083 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
2 Parent #2 ?/? g.233199114C>G - DIS3L2_000001 rs1215542783 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8941C>G, NM_152383.4:c.2194C>G r.(=), r.(?) p.(=), p.(Leu732Val)
3 Parent #2 -?/-? g.37067103T>A - MLH1_000008 rs764852270 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-25T>A, NM_001167617.1:c.745-25T>A, NM_001167618.1:c.316-25T>A, NM_001167619.1:c.316-25T>A, NM_001258271.1:c.1039-25T>A, NM_001258273.1:c.316-25T>A, NM_001258274.1:c.316-25T>A r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 -?/-? g.108143289C>T - ATM_000029 rs867514913 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3108C>T r.(=) p.(=)
13 Parent #2 -/- g.32912008G>A - BRCA2_000024 rs1799952 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
13 Parent #2 -?/-? g.48878078C>T - RB1_000013 rs530961288 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.30C>T r.(=) p.(=)
14 Parent #2 -/- g.95569719C>T - DICER1_000002 rs143454689 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4014G>A, NM_001271282.1:c.4014G>A, NM_030621.3:c.4014G>A, NM_177438.2:c.4014G>A r.(=) p.(=)
Legend