Individual #00016680

Reference -
Gender F
Geographic origin Arcadia
Geographic origin -
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     
0000008879 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000348 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     
2 Parent #2 ?/? g.128016882C>A - ERCC3_000014 rs587778276 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2207G>T r.(?) p.(Arg736Ile)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 -?/-? g.90993061A>G - NBN_000011 rs61754795 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.381T>C r.(=) p.(=)
11 Parent #2 ?/? g.2906701G>A - CDKN1C_000004 rs374634184 - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.19C>T, NM_001122630.1:c.-10-5C>T, NM_001122631.1:c.-10-5C>T r.(?), r.spl? p.(Arg7Cys), p.?
13 Parent #2 +/+ g.32910831C>G - BRCA2_000044 rs587781471 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2339C>G r.(?) p.(Ser780*)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
Legend