Individual #00016769

Reference -
Gender F
Geographic origin Veroia
Geographic origin Aiginio, Pieria
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     
0000009008 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000459 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     
5 Parent #2 ?/? g.112178015A>G - APC_000035 rs201375478 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.6724A>G, NM_001127510.2:c.6724A>G, NM_001127511.2:c.6670A>G r.(?) p.(Ser2242Gly), p.(Ser2224Gly)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
9 Parent #2 ?/? g.135779171C>G - TSC1_000024 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2075G>C, NM_001162426.1:c.2072G>C, NM_001162427.1:c.1922G>C r.(?) p.(Arg692Pro), p.(Arg691Pro), p.(Arg641Pro)
11 Parent #2 ?/? g.108155223C>G - ATM_000004 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+23C>G r.(=) p.(=)
16 Parent #2 -?/-? g.3656525C>T - SLX4_000040  rs138615800 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.710G>A r.(?) p.(Arg237Gln)
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