Individual #00021878

Reference -
Gender F
Geographic origin Kourouklata, Cephalonia
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     

OvCa FH     

Subtype     

Owner     
0000014035 87y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002209 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     
2 Parent #2 ?/? g.29541266A>G - ALK_000121 rs763856615 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1551T>C r.(=) p.(=)
2 Parent #2 ?/? g.47707804G>C - MSH2_000086 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2459-31G>C, NM_001258281.1:c.2261-31G>C r.(=) p.(=)
2 Parent #2 ./. g.242371116T>C - chr2_000015 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.22043930G>A - chr9_000008 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.47259728G>A - DDB2_000004 rs143049891 - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1228G>A r.(?) p.(Ala410Thr)
12 Parent #2 -/- g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 -?/-? g.121437108C>T - HNF1A_000015 rs193922584 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
13 Parent #2 ?/? g.103514997C>G - ERCC5_000024 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1498C>G r.(?) p.(Arg500Gly)
14 Parent #2 ?/? g.45639977del - FANCM_000094 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+28del r.(=) p.(=)
16 Parent #2 ?/? g.3639582G>T - SLX4_000153 rs142205392 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4057C>A r.(?) p.(His1353Asn)
Legend