Individual #00016254

Reference -
Gender F
Geographic origin Cyprus
Geographic origin -
Population Cypriot
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     
0000008245 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000047 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.215672534T>A - BARD1_000002 - - Germline - - - - Despoina Kalfakakou BARD1 - NM_000465.2:c.158+1602A>T r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29670300G>A - chr6_000025 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.66459265C>G - SBDS_000002 rs755622907 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.192G>C r.(?) p.(Gln64His)
7 Parent #2 ?/? g.148506293G>A - EZH2_000003 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.2096-46C>T, NM_001203248.1:c.2069-46C>T, NM_001203249.1:c.1943-46C>T, NM_004456.4:c.2111-46C>T, NM_152998.2:c.1979-46C>T r.(=) p.(=)
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
10 Parent #2 ?/? g.43600559T>C - RET_000006 rs139790943 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.785T>C, NM_020975.4:c.785T>C r.(?) p.(Val262Ala)
11 Parent #2 -?/-? g.108122659G>T - ATM_000022 rs200381392 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1703G>T r.(?) p.(Arg568Ile)
16 Parent #2 ?/? g.2121737G>A - TSC2_000015 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1947-48G>A, NM_001077183.1:c.1947-48G>A, NM_001114382.1:c.1947-48G>A r.(=) p.(=)
16 Parent #2 -?/-? g.2138663_2138666del - TSC2_000007 rs137854184 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.*52_*55del, NM_001077183.1:c.*52_*55del, NM_001114382.1:c.*52_*55del r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
Legend