Individual #00017351

Reference -
Gender F
Geographic origin Temenia, Chania
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     
0000009800 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001021 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     
3 Parent #2 -/- g.14206341G>C - XPC_000004 rs184879571 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.761C>G, NM_004628.4:c.872C>G r.(?) p.(Ser254Cys), p.(Ser291Cys)
9 Parent #2 -?/-? g.135800991A>C - TSC1_000044 rs199620268 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.346T>G, NM_001162426.1:c.346T>G, NM_001162427.1:c.210+1597T>G r.(?), r.(=) p.(Leu116Val), p.(=)
11 Parent #2 ?/? g.108121411_108121412del - ATM_000054 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-17_1236-16del r.spl? p.?
11 Parent #1 ?/? g.108121412dup - ATM_000055 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-16dup r.spl? p.?
12 Parent #2 ?/? g.58144942A>G - CDK4_000005 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.354+48T>C r.(=) p.(=)
13 Parent #2 ?/? g.48939097G>A - RB1_000009 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.929G>A r.(?) p.(Gly310Glu)
15 Parent #2 ?/? g.40500788G>A - BUB1B_000015 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2010-50G>A r.(=) p.(=)
15 Parent #2 ?/? g.89848498A>G - FANCI_000077 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+25A>G, NM_018193.2:c.3006+25A>G r.(=) p.(=)
Legend