Individual #00016899

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Chania
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     
0000009175 58y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000645 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     
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
10 Parent #2 ?/? g.43600359G>A - RET_000008 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.626-41G>A, NM_020975.4:c.626-41G>A r.(=) p.(=)
11 Parent #2 ?/? g.108201193_108201194del - ATM_000103 rs3092832 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7515+45_7515+46del r.(=) p.(=)
13 Parent #2 +/+ g.32936658A>T - BRCA2_000007 rs81002836 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-2A>T r.spl? p.?
17 Parent #2 ?/? g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.655-29T>C, NM_001042492.2:c.655-29T>C, NM_001128147.2:c.655-29T>C r.(=) p.(=)
Legend