Individual #00017461

Reference -
Gender F
Geographic origin Kefalonia
Geographic origin Constantinople
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     
0000009933 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006943 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     
1 Parent #2 ?/? g.193205360C>A - CDC73_000044 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1317-26C>A r.(=) p.(=)
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.(=)
8 Parent #2 -/- g.145741787G>A - RECQL4_000031 rs146709578 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.716C>T - p.?
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 +/+ g.32913022del - BRCA2_000273 rs886040537 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4530del r.(?) p.(Glu1511Asnfs*32)
16 Parent #2 ?/? g.2138655_2138656insGTCA - TSC2_000222 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.*44_*45insGTCA, NM_001077183.1:c.*44_*45insGTCA, NM_001114382.1:c.*44_*45insGTCA r.(=) p.(=)
Legend