Individual #00021558

Reference -
Gender F
Geographic origin Karditsa
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     
0000013573 52y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001738 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.241669466T>C - FH_000039 - - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.741A>G r.(=) p.(=)
3 Parent #2 -?/-? g.52436710_52436711del - BAP1_000028 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1984-21_1984-20del r.(=) p.(=)
7 Parent #2 -?/-? g.6026827G>C - PMS2_000024 rs141458772 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
8 Parent #2 -?/-? g.30924558A>C - WRN_000040 rs367991517 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.514A>C r.(?) p.(Thr172Pro)
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
11 Parent #2 -/- g.532729C>T - HRAS_000005 rs140060409 - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.477G>A, NM_005343.2:c.477G>A, NM_176795.3:c.*46G>A r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 -?/-? g.108123551C>T - ATM_000024 rs2227922 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1810C>T r.(?) p.(Pro604Ser)
12 Parent #2 ?/? g.121437391C>G - HNF1A_000036 rs376832928 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1729C>G r.(?) p.(His577Asp)
16 Parent #2 -/- g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
16 Parent #2 ?/? g.3640195T>G - SLX4_000136 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3444A>C r.(?) p.(Glu1148Asp)
17 Parent #2 ?/? g.29684427G>A - NF1_000271 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7907+40G>A, NM_001042492.2:c.7970+40G>A r.(=) p.(=)
Legend