Individual #00021350

Reference -
Gender F
Geographic origin Mitilini
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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013234 31y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000885 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
3 Parent #2 ./. g.52439298T>G - BAP1_000041 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.944A>C r.(?) p.(Glu315Ala)
13 Parent #2 ./. g.32913066A>G - BRCA2_000127 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4574A>G r.(?) p.(His1525Arg)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.49039095_49039096del - RB1_000004 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39_2212-38del r.(=) p.(=)
13 Parent #1 ./. g.49039096dup - RB1_000005 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-38dup r.(=) p.(=)
13 Parent #2 ./. g.49047451A>G - RB1_000006 rs4151610 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
13 Parent #2 ./. g.103514608G>A - ERCC5_000051 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1109G>A r.(?) p.(Arg370His)
16 Parent #2 ./. g.14029516G>C - ERCC4_000021 rs1800068 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1727G>C r.(?) p.(Arg576Thr)
16 Parent #2 ./. g.89849228G>A - FANCA_000104 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1626+39C>T r.(=) p.(=)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C r.(=) p.(=)
17 Parent #2 ./. g.41256279C>G - BRCA1_000078 rs80358116 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.302-1G>C, NM_007297.3:c.161-1G>C, NM_007298.3:c.302-1G>C, NM_007299.3:c.302-1G>C, NM_007300.3:c.302-1G>C r.spl? p.?
X Parent #2 ./. g.51210061T>C - chrX_000001 - - - - - - - Despoina Kalfakakou - - - -
Legend