Individual #00016953

Reference -
Gender F
Geographic origin Andros
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     
0000009244 52y - - - - Despoina Kalfakakou
0000009245 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000722 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     
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
6 Parent #2 -?/-? g.35434010C>T - FANCE_000005 rs189384185 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
9 Parent #2 ?/? g.100459556C>T - XPA_000013 rs776601238 - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.19G>A r.(?) p.(Ala7Thr)
10 Parent #2 -?/-? g.104353395C>T - SUFU_000004 rs149513330 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
10 Parent #2 ./. g.123346132G>A - chr10_000022 - - - - - - - Despoina Kalfakakou - - - -
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.44228434C>T - EXT2_000032 rs765251957 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1686C>T, NM_001178083.1:c.1617C>T, NM_207122.1:c.1587C>T r.(=) p.(=)
11 Parent #2 ?/? g.95532486C>T - CEP57_000017 rs1180691016 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.109C>T, NM_001243777.1:c.136C>T, NM_014679.4:c.136C>T r.(?) p.(Leu37Phe), p.(Leu46Phe)
11 Parent #2 ?/? g.108196951C>T - ATM_000117 rs200940211 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6974C>T r.(?) p.(Ala2325Val)
16 Parent #2 ?/? g.68844296G>A - CDH1_000019 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.832+52G>A r.(=) p.(=)
19 Parent #2 ?/? g.1226534C>A - STK11_000026 rs558040549 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1190C>A r.(?) p.(Ala397Glu)
22 Parent #2 ?/? g.24176298G>A - SMARCB1_000010 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1092-30G>A, NM_003073.3:c.1119-30G>A r.(=) p.(=)
Legend