Individual #00021568

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013942 69y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001749 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     
1 Parent #2 ./. g.17355075A>T - SDHB_000007 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
2 Parent #2 ./. g.29416152C>T - ALK_000028 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4801G>A r.(?) p.(Ala1601Thr)
3 Parent #2 ./. g.52436917C>G - BAP1_000013 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1891-30G>C r.(=) p.(=)
3 Parent #2 ./. g.52439240T>C - BAP1_000002 rs28997577 - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1002A>G r.(=) p.(=)
3 Parent #2 ./. g.52440418A>T - BAP1_000004 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.660-26T>A r.(=) p.(=)
4 Parent #2 ./. g.55602912G>A - KIT_000008 rs55817813 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2622G>A, NM_001093772.1:c.2610G>A r.(=) p.(=)
9 Parent #2 ./. g.135804266G>A - TSC1_000005 rs62621221 - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
11 Parent #2 ./. g.32456453_32456454insA - WT1_000029 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.438_439insT, NM_001198551.1:c.-4369_-4368insT, NM_001198552.1:c.-4369_-4368insT, NM_024424.3:c.438_439insT, NM_024426.4:c.438_439insT r.(?), r.(=) p.(Gly147Trpfs*52), p.(=)
11 Parent #2 ./. g.32456456A>G - WT1_000030 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.436T>C, NM_001198551.1:c.-4371T>C, NM_001198552.1:c.-4371T>C, NM_024424.3:c.436T>C, NM_024426.4:c.436T>C r.(?), r.(=) p.(Trp146Arg), p.(=)
11 Parent #2 ./. g.108175387G>C - ATM_000035 rs3092828 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
15 Parent #2 ./. g.89828441C>T - FANCI_000034 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1813C>T, NM_018193.2:c.1813C>T r.(?) p.(Leu605Phe)
20 Parent #2 ./. g.62309839A>G - chr20_000006 rs6010620 - - - - - - Despoina Kalfakakou - - - -
Legend