Individual #00021465

Reference -
Gender F
Geographic origin Drepano, Kozani & Trabzon
Geographic origin Drepano, Kozani & ─░zmit, Asia Minor
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     
0000013237 31y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001186 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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 #2 ?/? g.10089670A>G - FANCD2_000004 rs145129959 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1348A>G, NM_033084.3:c.1348A>G r.(?) p.(Ile450Val)
5 Parent #2 ./. g.44662549_44662550insTTTC - chr5_000036 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -?/-? g.91303918A>G - BLM_000071 rs201231857 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1315A>G r.(?) p.(Met439Val)
16 Parent #2 ?/? g.14038555G>T - ERCC4_000038 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1905-25G>T r.(=) p.(=)
Legend