Individual #00016911

Reference -
Gender F
Geographic origin Chania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00016910
Panel size 4
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     
0000009194 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007514 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.242371116T>C - chr2_000015 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.37083797C>T - MLH1_000063 rs1559578814 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1706C>T, NM_001167617.1:c.1412C>T, NM_001167618.1:c.983C>T, NM_001167619.1:c.983C>T, NM_001258271.1:c.1706C>T, NM_001258273.1:c.983C>T, NM_001258274.1:c.983C>T r.(?) p.(Ala569Val), p.(Ala471Val), p.(Ala328Val)
5 Parent #2 ?/? g.176684158G>A - NSD1_000035 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4966+6G>A, NM_172349.2:c.4159+6G>A r.(=) p.(=)
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.(=)
9 Parent #2 -?/-? g.97864062C>T - FANCC_000053 rs587779902 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.1604G>A, NM_001243743.1:c.1604G>A r.(?) p.(Arg535His)
11 Parent #2 ?/? g.32417857T>G - WT1_000038 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1144A>C, NM_001198551.1:c.559A>C, NM_001198552.1:c.508A>C, NM_024424.3:c.1195A>C, NM_024426.4:c.1195A>C r.(?) p.(Asn382His), p.(Asn187His), p.(Asn170His), p.(Asn399His)
11 Parent #2 ?/? g.64575501A>G - MEN1_000045 - - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.531T>C, NM_130799.2:c.516T>C, NM_130800.2:c.531T>C, NM_130801.2:c.531T>C, NM_130802.2:c.531T>C, NM_130803.2:c.531T>C, NM_130804.2:c.531T>C r.(=) p.(=)
11 Parent #2 +/+ g.108214075_108214084del Fostira et al (2020)  ATM_000106 rs786202800 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8395_8404del r.(?) p.(Phe2799Lysfs*4)
13 Parent #2 -/- g.32911547C>G - BRCA2_000022 rs55638633 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3055C>G r.(?) p.(Leu1019Val)
15 Parent #2 ?/? g.89848515G>A - FANCI_000057 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+42G>A, NM_018193.2:c.3006+42G>A r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68867187C>G - CDH1_000003 rs139757930 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
Legend