Individual #00021696

Reference -
Gender F
Geographic origin -
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     
0000013532 50y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001908 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
5 Parent #2 -?/-? g.112170767T>C - APC_000106 rs72541808 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1863T>C, NM_001127510.2:c.1863T>C, NM_001127511.2:c.1809T>C r.(=) p.(=)
7 Parent #2 ?/? g.6042143G>T - PMS2_000043 rs36038802 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 -?/-? g.116340239C>A - MET_000068 rs747940150 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1101C>A, NM_001127500.1:c.1101C>A r.(=) p.(=)
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
10 Parent #2 -?/-? g.88679035A>G - BMPR1A_000003 rs974541270 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.975A>G r.(=) p.(=)
14 Parent #2 ?/? g.95578562C>T - DICER1_000087 rs542398644 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2063G>A, NM_001271282.1:c.2063G>A, NM_030621.3:c.2063G>A, NM_177438.2:c.2063G>A r.(?) p.(Arg688Gln)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ?/? g.68842283G>A - CDH1_000043 rs368884824 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.388-44G>A r.(=) p.(=)
Legend