Individual #00017233

Reference -
Gender F
Geographic origin Heraklion
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     
0000009625 50y - - - - Despoina Kalfakakou
0000009626 59y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000891 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     
1 Parent #2 ./. g.121280579C>G - chr1_000008 - - - - - - - Despoina Kalfakakou - - - -
1 Parent #2 ?/? g.241675407C>T - FH_000031 rs200343823 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.415G>A r.(?) p.(Val139Met)
3 Parent #2 ?/? g.14208620T>C - XPC_000036 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.510+49A>G, NM_004628.4:c.621+49A>G r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.116399343C>G - MET_000036 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.2265-102C>G, NM_001127500.1:c.2265-48C>G r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 -/- g.30954294C>T - WRN_000030 rs148286708 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1909C>T r.(?) p.(Arg637Trp)
11 Parent #2 ?/? g.32456784C>G - WT1_000005 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
11 Parent #2 ?/? g.47236678G>A - DDB2_000014 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.-10G>A r.(=) p.(=)
11 Parent #2 -?/-? g.108151706_108151707insA - ATM_000128 rs569564716 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-16_3403-15insA r.(=) p.(=)
15 Parent #2 ?/? g.91334085C>A - BLM_000062 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3019+11C>A r.(=) p.(=)
16 Parent #2 ?/? g.2120427G>A - TSC2_000162 rs45500703 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1717-30G>A, NM_001077183.1:c.1717-30G>A, NM_001114382.1:c.1717-30G>A r.(=) p.(=)
16 Parent #2 -?/-? g.68867187C>G - CDH1_000003 rs139757930 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
17 Parent #2 ?/? g.59761229C>T - BRIP1_000027 rs149016505 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3178G>A r.(?) p.(Val1060Ile)
17 Parent #2 -?/-? g.66521951A>G - PRKAR1A_000022 rs878884422 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.606A>G, NM_001276290.1:c.606A>G, NM_002734.4:c.606A>G, NM_212471.2:c.606A>G, NM_212472.2:c.606A>G r.(=) p.(=)
Legend