Individual #00021386

Reference -
Gender F
Geographic origin Lamia
Geographic origin Agrafa
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     
0000013592 53y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000998 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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 #1 ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067097_37067102del - MLH1_000042 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-31_1039-26del, NM_001167617.1:c.745-31_745-26del, NM_001167618.1:c.316-31_316-26del, NM_001167619.1:c.316-31_316-26del, NM_001258271.1:c.1039-31_1039-26del, NM_001258273.1:c.316-31_316-26del, NM_001258274.1:c.316-31_316-26del r.(=) p.(=)
8 Parent #2 ./. g.30916038A>G - WRN_000072 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.75A>G r.(=) p.(=)
10 Parent #2 ./. g.64278725A>G - chr10_000028 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.88672188T>C - BMPR1A_000025 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.675+47T>C r.(=) p.(=)
11 Parent #2 ./. g.69239782C>T - chr11_000014 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.89858549C>T - FANCI_000075 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3853C>T, NM_018193.2:c.3673C>T r.(?) p.(Arg1285*), p.(Arg1225*)
16 Parent #2 ./. g.23614913A>T - PALB2_000022 rs62625284 - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3428T>A r.(?) p.(Leu1143His)
16 Parent #2 ./. g.89839659G>A - FANCA_000119 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2014+20C>T r.(=) p.(=)
19 Parent #2 ./. g.33793069G>C - CEBPA_000011 - - - - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.252C>G r.(?) p.(His84Gln)
Legend