Individual #00016806

Reference -
Gender F
Geographic origin Thessaloniki
Geographic origin Costantinople
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     
0000009061 66y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000512 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.30143454C>T - ALK_000037 rs756782371 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.72G>A r.(=) p.(=)
2 Parent #2 -?/-? g.47643476C>T - MSH2_000010 rs4987189 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
2 Parent #2 ?/? g.47702457_47702458insG - MSH2_000019 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+48_2005+49insG, NM_001258281.1:c.1807+48_1807+49insG r.(=) p.(=)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.43572726G>A - RET_000035 rs1366681125 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.20G>A, NM_020975.4:c.20G>A r.(?) p.(Gly7Asp)
14 Parent #2 +?/+? g.95557411G>A - DICER1_000026 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.5400C>T, NM_001271282.1:c.5563C>T, NM_030621.3:c.5563C>T, NM_177438.2:c.5563C>T r.(=), r.(?) p.(=), p.(Arg1855*)
17 Parent #2 -?/-? g.56798128A>G - RAD51C_000010 rs28363317 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.859A>G r.(?) p.(Thr287Ala)
Legend