Individual #00016469

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     
0000008564 50y - - - - Despoina Kalfakakou
0000008565 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000191 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
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.30924558A>C - WRN_000040 rs367991517 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.514A>C r.(?) p.(Thr172Pro)
11 Parent #2 ?/? g.44148528C>T - EXT2_000008 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1178+23C>T, NM_001178083.1:c.1079+23C>T, NM_207122.1:c.1079+23C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108150365_108150367del - ATM_000032 rs545376366 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
11 Parent #2 ?/? g.108150374T>C - ATM_000060 rs373402943 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+39T>C r.(=) p.(=)
11 Parent #2 ?/? g.108158418G>A - ATM_000036 rs923836140 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4085G>A r.(?) p.(Ser1362Asn)
11 Parent #2 ?/? g.108199950A>C - ATM_000038 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7292A>C r.(?) p.(Lys2431Thr)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.48878131C>T - RB1_000014  rs776175164 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.83C>T r.(?) p.(Pro28Leu)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ?/? g.2132399C>T - TSC2_000068 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-38C>T, NM_001077183.1:c.3682+600C>T, NM_001114382.1:c.3814+600C>T r.(=) p.(=)
16 Parent #2 ./. g.89986091G>A - chr16_000003 rs11547464 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.36101206T>C - chr17_000006 - - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 -?/-? g.33792925G>A - CEBPA_000005 rs1060504475 - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.396C>T r.(=) p.(=)
Legend