Individual #00021406

Reference -
Gender F
Geographic origin Neochori, Gortynia
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     
0000013549 51y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001093 DNA SEQ-NG-I 1 - 3 Despoina Kalfakakou



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
5 Parent #2 ./. g.1279837C>T - chr5_000011 rs35656989 - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.48939065T>A - RB1_000048 rs772362181 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.897T>A r.(?) p.(Phe299Leu)
14 Parent #2 ?/? g.45644349A>G - FANCM_000019 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2392A>G r.(?) p.(Arg798Gly)
Legend