Individual #00021778

Reference -
Gender F
Geographic origin Karditsa
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     
0000013655 55y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002056 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.14208789G>A - XPC_000017 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-36C>T, NM_004628.4:c.537-36C>T r.(=) p.(=)
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
13 Parent #2 -/- g.48916837A>G - RB1_000089 rs149800437 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.367A>G r.(?) p.(Asn123Asp)
16 Parent #2 ?/? g.3633101T>G - SLX4_000075 rs766089444 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5150A>C r.(?) p.(Gln1717Pro)
Legend