Individual #00021565

Reference -
Gender F
Geographic origin Kalymnos
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     
0000013554 51y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001746 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.47698108T>C - MSH2_000026 rs61756466 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
3 Parent #2 ./. g.10076134T>C - FANCD2_000123 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.206-19T>C, NM_033084.3:c.206-19T>C r.(=) p.(=)
4 Parent #2 ./. g.55593624A>T - KIT_000017 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1690A>T, NM_001093772.1:c.1678A>T r.(?) p.(Asn564Tyr), p.(Asn560Tyr)
4 Parent #2 ./. g.55604678C>T - KIT_000014 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2886C>T, NM_001093772.1:c.2874C>T r.(=) p.(=)
9 Parent #2 ./. g.35075236A>G - FANCG_000035 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1480+40T>C r.(=) p.(=)
9 Parent #2 ./. g.135800991A>C - TSC1_000044 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.346T>G, NM_001162426.1:c.346T>G, NM_001162427.1:c.210+1597T>G r.(?), r.(=) p.(Leu116Val), p.(=)
10 Parent #2 ./. g.104357064C>T - SUFU_000003 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
13 Parent #2 ./. g.32911547C>G - BRCA2_000022 rs55638633 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3055C>G r.(?) p.(Leu1019Val)
13 Parent #2 ./. g.103527869C>T - ERCC5_000030 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3177C>T r.(=) p.(=)
17 Parent #2 ./. g.17125886G>A - FLCN_000034 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.708C>T, NM_144997.5:c.708C>T r.(=) p.(=)
19 Parent #2 ./. g.45860811G>A - ERCC2_000097 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1308-10C>T, NM_001130867.1:c.*1307C>T r.(=) p.(=)
Legend