Individual #00021230

Reference -
Gender F
Geographic origin Tzoumerka, Arta
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     
0000013861 65y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000403 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.193099415G>A - CDC73_000004 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.307+42G>A r.(=) p.(=)
2 Parent #2 ./. g.232995439T>G - DIS3L2_000015 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
5 Parent #2 ./. g.112174096C>T - APC_000026 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.2805C>T, NM_001127510.2:c.2805C>T, NM_001127511.2:c.2751C>T r.(=) p.(=)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.148506292C>T - EZH2_000018 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.2096-45G>A, NM_001203248.1:c.2069-45G>A, NM_001203249.1:c.1943-45G>A, NM_004456.4:c.2111-45G>A, NM_152998.2:c.1979-45G>A r.(=) p.(=)
16 Parent #2 ./. g.2129455G>A - TSC2_000066 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3284+26G>A, NM_001077183.1:c.3152+26G>A, NM_001114382.1:c.3284+26G>A r.(=) p.(=)
16 Parent #2 ./. g.89839645_89839646del - FANCA_000060 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2014+33_2014+34del r.(=) p.(=)
17 Parent #2 ./. g.29556201C>T - NF1_000074 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>T, NM_001042492.2:c.2568C>T r.(=) p.(=)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
22 Parent #2 ./. g.30069483G>T - NF2_000004 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+8G>T, NM_016418.5:c.1340+8G>T, NM_181825.2:c.1340+8G>T, NM_181828.2:c.1214+8G>T, NM_181829.2:c.1217+8G>T, NM_181830.2:c.1091+8G>T, NM_181831.2:c.1091+8G>T, NM_181832.2:c.1340+8G>T, NM_181833.2:c.448-21258G>T r.(=) p.(=)
Legend