Individual #00017945

Reference -
Gender F
Geographic origin Messinia
Geographic origin -
Population Greek
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     
0000010788 57y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002116 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
6 Parent #2 ./. g.31263758G>A - chr6_000024 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
13 Parent #2 ?/? g.32911905A>T - BRCA2_000153 rs80358584 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3413A>T r.(?) p.(Gln1138Leu)
13 Parent #2 -?/-? g.48878090C>T - RB1_000069 rs148980395 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.42C>T r.(=) p.(=)
15 Parent #2 -/- g.91310214A>G - BLM_000043 rs146013879 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2268A>G r.(=) p.(=)
16 Parent #2 -/- g.2106725C>G - TSC2_000043 rs45473698 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.729C>G, NM_001077183.1:c.729C>G, NM_001114382.1:c.729C>G r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
Legend