Individual #00021888

Reference -
Gender F
Geographic origin Corfu
Geographic origin Megalopolis, Arcadia
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     
0000013819 62y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001680 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
2 Parent #2 ?/? g.29473926C>A - ALK_000052 rs13405107 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+45G>T r.(=) p.(=)
4 Parent #2 ?/? g.55593995C>T - KIT_000015 rs375351432 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1781C>T, NM_001093772.1:c.1769C>T r.(?) p.(Thr594Ile), p.(Thr590Ile)
7 Parent #2 ?/? g.116436095C>T - MET_000006 rs765332671 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
8 Parent #2 ?/? g.31001050A>G - WRN_000068 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3310-16A>G r.(=) p.(=)
12 Parent #2 ?/? g.58145168A>G - CDK4_000019 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.219-43T>C r.(=) p.(=)
13 Parent #2 ./. g.35252867C>A - chr13_000011 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
19 Parent #2 ?/? g.45872242C>T - ERCC2_000100 rs1337079900 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.192G>A, NM_001130867.1:c.120G>A r.(=) p.(=)
21 Parent #2 -?/-? g.36252918G>A - RUNX1_000010 rs773689002 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.363C>T, NM_001122607.1:c.363C>T, NM_001754.4:c.444C>T r.(=) p.(=)
Legend