Individual #00021592

Reference -
Gender F
Geographic origin Phocis
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     
0000013506 49y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001776 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.128017009C>T - ERCC3_000009 rs151216904 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
7 Parent #2 ?/? g.66460420A>T - SBDS_000019 rs182989808 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.-16T>A r.(=) p.(=)
8 Parent #2 ?/? g.30915988A>G - WRN_000048 rs757791580 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.25A>G r.(?) p.(Thr9Ala)
16 Parent #2 ?/? g.2129018G>A - TSC2_000279 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2967-15G>A, NM_001077183.1:c.2838-18G>A, NM_001114382.1:c.2967-15G>A r.(=) p.(=)
22 Parent #2 -?/-? g.29091178C>A - CHEK2_000012 rs200050883 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
Legend