Individual #00021463

Reference -
Gender F
Geographic origin Chania
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     
0000013773 60y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006955 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     
1 Parent #2 ?/? g.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
4 Parent #2 -/- g.55604597T>A - KIT_000013 rs72549296 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
7 Parent #2 ?/? g.55086988G>C - EGFR_000054 rs775964175 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.18G>C, NM_201282.1:c.18G>C, NM_201283.1:c.18G>C, NM_201284.1:c.18G>C r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
11 Parent #2 ?/? g.22646421T>A - FANCF_000005 rs371631248 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.936A>T r.(?) p.(Gln312His)
12 Parent #2 ?/? g.121426615C>A - HNF1A_000003 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.327-21C>A r.(=) p.(=)
12 Parent #2 ?/? g.121434308C>T - HNF1A_000006 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-36C>T r.(=) p.(=)
13 Parent #2 +/+ g.32936658A>T - BRCA2_000007 rs81002836 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-2A>T r.spl? p.?
16 Parent #2 ?/? g.68857273T>C - CDH1_000040 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1937-29T>C r.(=) p.(=)
Legend