Individual #00017161

Reference -
Gender F
Geographic origin Rethymno
Geographic origin Piraeus
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     
0000009519 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000858 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
9 Parent #2 ./. g.5070882G>C - chr9_000010 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29587566C>T - NF1_000080 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+33C>T, NM_001042492.2:c.4577+33C>T r.(=) p.(=)
X Parent #2 ?/? g.132826549A>G - GPC3_000002 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-27T>C, NM_001164618.1:c.1119-27T>C, NM_001164619.1:c.1005-27T>C, NM_004484.3:c.1167-27T>C r.(=) p.(=)
Legend