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     

OvCa FH     

Subtype     

Owner     
0000013592 53y - - 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 - Germline - - - - 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 rs1178900468 - Germline - - - - 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 rs150524008 - Germline - - - - 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 - - Germline - - - - 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 rs121918164 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3428T>A r.(?) p.(Leu1143His)
16 Parent #2 ?/? g.89839659G>A - FANCA_000119 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2014+20C>T r.(=) p.(=)
19 Parent #2 ?/? g.33793069G>C - CEBPA_000011 rs878854700 - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.252C>G r.(?) p.(His84Gln)
Legend