Individual #00021499

Reference -
Gender F
Geographic origin Mikrokampos, Kilkis
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, OVCA
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     
0000013596 53y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013882 66y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007412 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.37035011A>G - MLH1_000022  rs56198082 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.-28A>G, NM_001167617.1:c.-544A>G, NM_001167618.1:c.-973A>G, NM_001167619.1:c.-886A>G, NM_001258271.1:c.-28A>G, NM_001258273.1:c.-660A>G, NM_001258274.1:c.-1123A>G r.(=) p.(=)
3 Parent #2 -/- g.37035032C>T - MLH1_000066 rs104894994 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.-7C>T, NM_001167617.1:c.-523C>T, NM_001167618.1:c.-952C>T, NM_001167619.1:c.-865C>T, NM_001258271.1:c.-7C>T, NM_001258273.1:c.-639C>T, NM_001258274.1:c.-1102C>T r.(=) p.(=)
6 Parent #2 ?/? g.35425657G>T - FANCE_000018 - - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.901-36G>T r.(=) p.(=)
8 Parent #2 ?/? g.145738804C>T - RECQL4_000034 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2261G>A - p.?
10 Parent #2 ?/? g.43623746C>A - RET_000005 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.*1544C>A, NM_020975.4:c.*29C>A r.(=) p.(=)
11 Parent #2 -?/-? g.108188136G>A - ATM_000006 rs1800060 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6235G>A r.(?) p.(Val2079Ile)
11 Parent #2 -?/-? g.108236279A>G - ATM_000008 rs55900855 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.*44A>G r.(=) p.(=)
14 Parent #2 ?/? g.45645006C>T - FANCM_000043 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.3049C>T r.(?) p.(Leu1017Phe)
15 Parent #2 ?/? g.89848498A>G - FANCI_000077 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+25A>G, NM_018193.2:c.3006+25A>G r.(=) p.(=)
15 Parent #2 -/- g.91310214A>G - BLM_000043 rs146013879 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2268A>G r.(=) p.(=)
16 Parent #2 -/- g.2133701G>A - TSC2_000071 rs45517319 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3889G>A, NM_001077183.1:c.3688G>A, NM_001114382.1:c.3820G>A r.(?) p.(Ala1297Thr), p.(Ala1230Thr), p.(Ala1274Thr)
16 Parent #2 ?/? g.14026187A>G - ERCC4_000012 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1102+45A>G 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