Individual #00015573

Reference -
Gender F
Geographic origin Thesprotiko, Preveza
Geographic origin Distrato, Ioannina
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     
0000007289 40y - - - - Despoina Kalfakakou
0000007290 34y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000007 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
11 Parent #2 -?/-? g.108190715T>C - ATM_000007 rs753646931 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6382T>C r.(=) p.(=)
13 Parent #2 -?/-? g.32905024A>G - BRCA2_000030 rs376686897 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.682-32A>G r.(=) p.(=)
16 Parent #2 -?/-? g.2108724C>T - TSC2_000009 rs373618207 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.849-24C>T, NM_001077183.1:c.849-24C>T, NM_001114382.1:c.849-24C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2120559G>A - TSC2_000013 rs45517203 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1819G>A, NM_001077183.1:c.1819G>A, NM_001114382.1:c.1819G>A r.(?) p.(Ala607Thr)
Legend