Individual #00021722

Reference -
Gender F
Geographic origin Xanthi
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     
0000013602 53y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001943 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     
3 Parent #2 -/- g.52436441C>A - BAP1_000011 rs149499021 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-4G>T r.spl? p.?
6 Parent #2 ./. g.160833623T>C - chr6_000026 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -/- g.88681409C>T - BMPR1A_000042 rs150946485 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1299C>T r.(=) p.(=)
10 Parent #2 ./. g.107516376C>T - chr10_000009 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.89011066C>G - chr11_000011 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
16 Parent #2 -/- g.14042177C>T - ERCC4_000025 rs3136225 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2724C>T r.(=) p.(=)
Legend