Individual #00021635

Reference -
Gender F
Geographic origin Paros / Tinos
Geographic origin Paros / Tinos
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     
0000013485 48y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001313 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
1 Parent #2 -?/-? g.45797548C>T - MUTYH_000045 rs188830619 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.956-27G>A, NM_001048172.1:c.917-27G>A, NM_001048173.1:c.914-27G>A, NM_001048174.1:c.914-27G>A, NM_001128425.1:c.998-27G>A, NM_012222.2:c.989-27G>A r.(=) p.(=)
2 Parent #2 -?/-? g.47709968C>T - MSH2_000064 rs1366621101 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2685C>T, NM_001258281.1:c.2487C>T r.(=) p.(=)
3 Parent #2 -/- g.14206341G>C - XPC_000004 rs184879571 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.761C>G, NM_004628.4:c.872C>G r.(?) p.(Ser254Cys), p.(Ser291Cys)
4 Parent #2 -/- g.55592059A>G - KIT_000023 rs151016327 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1383A>G, NM_001093772.1:c.1383A>G r.(=) p.(=)
8 Parent #2 ?/? g.145739127G>A - RECQL4_000010 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
16 Parent #2 ?/? g.50815336T>C - CYLD_000027 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1675+14T>C, NM_001042412.1:c.1675+14T>C, NM_015247.2:c.1684+14T>C r.(=) p.(=)
17 Parent #2 -/- g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2252-31A>T, NM_001042492.2:c.2252-31A>T, NM_001128147.2:c.*5197A>T r.(=) p.(=)
21 Parent #2 ?/? g.36164894C>A - RUNX1_000018 - - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.900G>T, NM_001754.4:c.981G>T r.(=) p.(=)
X Parent #2 -/- g.14861817T>C - FANCB_000014 rs143131218 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2452A>G, NM_152633.2:c.2452A>G r.(?) p.(Arg818Gly)
Legend