Individual #00021619

Reference -
Gender F
Geographic origin Aegina
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     
0000013923 68y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001812 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.58468474A>T - FANCL_000008 rs367703311 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.-26T>A, NM_018062.3:c.-26T>A r.(=) p.(=)
2 Parent #2 ?/? g.128017009C>T - ERCC3_000009 rs151216904 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
5 Parent #2 ./. g.131995957G>A - chr5_000043 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30915988A>G - WRN_000048 rs757791580 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.25A>G r.(?) p.(Thr9Ala)
8 Parent #2 ?/? g.118842623del - EXT1_000028 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1165-35del r.(=) p.(=)
14 Parent #2 ?/? g.45669161C>G - FANCM_000107 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.6097C>G r.(?) p.(Gln2033Glu)
16 Parent #2 -/- g.68772239C>A - CDH1_000027 rs139866691 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.88C>A r.(?) p.(Pro30Thr)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
Legend