Individual #00016967

Reference -
Gender F
Geographic origin -
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     
0000009264 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006916 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
4 Parent #2 -?/-? g.55561810C>G - KIT_000019 rs144933028 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.200C>G, NM_001093772.1:c.200C>G r.(?) p.(Thr67Ser)
8 Parent #2 ?/? g.31001029A>G - WRN_000013 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3310-37A>G r.(=) p.(=)
17 Parent #2 +/+ g.41199660C>T [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000056 rs80357212 - Germline - - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5467G>A, NM_007297.3:c.5326G>A, NM_007298.3:c.2155G>A, NM_007299.3:c.2081G>A, NM_007300.3:c.5530G>A r.(?) p.(Ala1823Thr), p.(Ala1776Thr), p.(Ala719Thr), p.(Cys694Tyr), p.(Ala1844Thr)
Legend