Individual #00021999

Reference -
Gender F
Geographic origin -
Geographic origin -
Population -
Consanguinity -
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     
0000014068 63y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007012 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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     
7 Parent #2 ?/? g.6043711C>T - PMS2_000075 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.164-22G>A r.(=) p.(=)
8 Parent #2 -?/-? g.145740527C>T - RECQL4_000232 rs373192242 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1483+7G>A - p.?
13 Parent #2 +/+ g.32936658A>T - BRCA2_000007 rs81002836 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-2A>T r.spl? p.?
17 Parent #2 -?/-? g.29552243G>A - NF1_000146 rs151138158 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1976G>A, NM_001042492.2:c.1976G>A, NM_001128147.2:c.*3235G>A r.(?), r.(=) p.(Arg659Gln), p.(=)
17 Parent #2 -/- g.41256101_41256103del - BRCA1_000065 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.441+36_441+38del, NM_007297.3:c.300+36_300+38del, NM_007298.3:c.441+36_441+38del, NM_007299.3:c.441+36_441+38del, NM_007300.3:c.441+36_441+38del r.(=) p.(=)
17 Parent #2 ?/? g.74469685_74469686insG - RHBDF2_000017 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1733+44_1733+45insC, NM_024599.5:c.1820+44_1820+45insC r.(=) p.(=)
Legend