Individual #00021622

Reference -
Gender F
Geographic origin Heraklion
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     
0000014019 79y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001815 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.52442016G>A - BAP1_000065 rs375700254 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.333C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
10 Parent #2 ?/? g.88659754A>G - BMPR1A_000039 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.431-30A>G r.(=) p.(=)
10 Parent #2 ?/? g.104357017A>G - SUFU_000021 rs574002050 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.877A>G, NM_016169.3:c.877A>G r.(?) p.(Ile293Val)
16 Parent #2 ?/? g.89869639A>G - FANCA_000192 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.792+28T>C, NM_001018112.1:c.792+28T>C r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
20 Parent #2 ./. g.62318225del - chr20_000011 - - - - - - - Despoina Kalfakakou - - - -
Legend