Individual #00021694

Reference -
Gender F
Geographic origin Piraeus
Geographic origin Florina
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     
0000013579 52y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001906 DNA SEQ-NG-I 1 - 68 Despoina Kalfakakou



Variants

68 entries on 1 page. Showing entries 1 - 68.
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.161326564C>T - SDHC_000016 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5555C>T, NM_001035512.1:c.237C>T, NM_001035513.1:c.180C>T, NM_001278172.1:c.140-5555C>T, NM_003001.3:c.339C>T r.(=) p.(=)
2 Parent #2 ./. g.47607015A>T - EPCAM_000042 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.765A>T r.(?) p.(Lys255Asn)
2 Parent #2 ./. g.47607055A>T - EPCAM_000043 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.805A>T r.(?) p.(Ile269Phe)
2 Parent #2 ./. g.47607056T>G - EPCAM_000041 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.806T>G r.(?) p.(Ile269Ser)
3 Parent #2 ./. g.10084739T>C - FANCD2_000076 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.894T>C, NM_033084.3:c.894T>C r.(=) p.(=)
3 Parent #2 ./. g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1098+4A>G, NM_033084.3:c.1098+4A>G r.spl? p.?
3 Parent #2 ./. g.10106476T>C - FANCD2_000007 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2085T>C, NM_033084.3:c.2085T>C r.(=) p.(=)
4 Parent #2 ./. g.100239349A>G - chr4_000018 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.100239351A>G - chr4_000019 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.6026598T>C - PMS2_000062 rs63750100 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1798A>G r.(?) p.(Met600Val)
7 Parent #2 ./. g.6026601C>T - PMS2_000063 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1795G>A r.(?) p.(Asp599Asn)
7 Parent #2 ./. g.6026959G>C - PMS2_000006 rs63750685 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
7 Parent #2 ./. g.6042143G>T - PMS2_000043 rs36038802 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
7 Parent #2 ./. g.6042307C>T - PMS2_000034 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ./. g.6042310A>G - PMS2_000011 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
7 Parent #2 ./. g.6043658A>G - PMS2_000040 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.195T>C r.(=) p.(=)
7 Parent #2 ./. g.6045597T>G - PMS2_000053 rs1802682 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.89A>C r.(?) p.(Gln30Pro)
7 Parent #2 ./. g.66453348T>C - SBDS_000005 rs11557421 - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
7 Parent #2 ./. g.66453470G>A - SBDS_000011 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.641C>T r.(?) p.(Pro214Leu)
7 Parent #2 ./. g.66453508A>T - SBDS_000010 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
7 Parent #2 ./. g.66453515C>A - SBDS_000009 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
7 Parent #2 ./. g.66458424T>G - SBDS_000028 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.259-20A>C r.(=) p.(=)
7 Parent #2 ./. g.66459197A>G - SBDS_000006 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.258+2T>C r.spl? p.?
7 Parent #2 ./. g.66460278C>A - SBDS_000007 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.127G>T r.(?) p.(Val43Leu)
7 Parent #2 ./. g.66460307T>C - SBDS_000029 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.98A>G r.(?) p.(Lys33Arg)
10 Parent #2 ./. g.88649841T>C - BMPR1A_000041 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.90T>C r.(=) p.(=)
10 Parent #2 ./. g.88649844T>C - BMPR1A_000040 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.93T>C r.(=) p.(=)
10 Parent #2 ./. g.88679035A>G - BMPR1A_000003 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.975A>G r.(=) p.(=)
11 Parent #2 ./. g.47256235G>C - DDB2_000027 rs55847708 - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.702+12G>C r.(=) p.(=)
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.95546720C>A - CEP57_000036 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.444C>A, NM_001243777.1:c.471C>A, NM_014679.4:c.471C>A r.(=) p.(=)
11 Parent #2 ./. g.95546725T>G - CEP57_000037 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.449T>G, NM_001243777.1:c.476T>G, NM_014679.4:c.476T>G r.(?) p.(Met150Arg), p.(Met159Arg)
11 Parent #2 ./. g.95562450A>G - CEP57_000033 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1200A>G, NM_001243777.1:c.1149A>G, NM_014679.4:c.1227A>G r.(=) p.(=)
15 Parent #2 ./. g.78894381A>G - chr15_000004 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.3640620G>T - SLX4_000016 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3019C>A r.(?) p.(Gln1007Lys)
16 Parent #2 ./. g.68835823C>T - CDH1_000007 rs33932809 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
17 Parent #2 ./. g.29527450T>C - NF1_000143 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.899T>C, NM_001042492.2:c.899T>C, NM_001128147.2:c.899T>C r.(?) p.(Leu300Pro)
17 Parent #2 ./. g.29527618C>T - NF1_000110 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1062+5C>T, NM_001042492.2:c.1062+5C>T, NM_001128147.2:c.1062+5C>T r.spl? p.?
17 Parent #2 ./. g.29528206A>G - NF1_000040 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1185+29A>G, NM_001042492.2:c.1185+29A>G, NM_001128147.2:c.1185+29A>G r.(=) p.(=)
17 Parent #2 ./. g.29541542A>G - NF1_000144 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1466A>G, NM_001042492.2:c.1466A>G, NM_001128147.2:c.1466A>G r.(?) p.(Tyr489Cys)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29548926T>G - NF1_000057 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1700T>G, NM_001042492.2:c.1700T>G, NM_001128147.2:c.1700T>G r.(?) p.(Val567Gly)
17 Parent #2 ./. g.29550425G>A - NF1_000041 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-37G>A, NM_001042492.2:c.1722-37G>A, NM_001128147.2:c.*1417G>A r.(=) p.(=)
17 Parent #2 ./. g.29550426A>T - NF1_000042 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-36A>T, NM_001042492.2:c.1722-36A>T, NM_001128147.2:c.*1418A>T r.(=) p.(=)
17 Parent #2 ./. g.29557869G>T - NF1_000109 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3123G>T, NM_001042492.2:c.3123G>T r.(?) p.(Met1041Ile)
17 Parent #2 ./. g.29557936C>A - NF1_000130 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3190C>A, NM_001042492.2:c.3190C>A r.(?) p.(Leu1064Ile)
17 Parent #2 ./. g.29559836A>G - NF1_000054 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3433A>G, NM_001042492.2:c.3433A>G r.(?) p.(Thr1145Ala)
17 Parent #2 ./. g.29559838G>A - NF1_000053 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3435G>A, NM_001042492.2:c.3435G>A r.(=) p.(=)
17 Parent #2 ./. g.29560209A>G - NF1_000058 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3686A>G, NM_001042492.2:c.3686A>G r.(?) p.(Asn1229Ser)
17 Parent #2 ./. g.29560239A>C - NF1_000049 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3708+8A>C, NM_001042492.2:c.3708+8A>C r.(=) p.(=)
17 Parent #2 ./. g.29560240T>A - NF1_000050 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3708+9T>A, NM_001042492.2:c.3708+9T>A r.(=) p.(=)
17 Parent #2 ./. g.29562743T>C - NF1_000137 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3823T>C, NM_001042492.2:c.3823T>C r.(?) p.(Phe1275Leu)
17 Parent #2 ./. g.29585430C>G - NF1_000140 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4179C>G, NM_001042492.2:c.4242C>G r.(?) p.(Ile1393Met), p.(Ile1414Met)
17 Parent #2 ./. g.29585495A>G - NF1_000089 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4244A>G, NM_001042492.2:c.4307A>G r.(?) p.(Glu1415Gly), p.(Glu1436Gly)
17 Parent #2 ./. g.29586094A>G - NF1_000112 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4314A>G, NM_001042492.2:c.4377A>G r.(=) p.(=)
17 Parent #2 ./. g.29587576A>T - NF1_000082 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+43A>T, NM_001042492.2:c.4577+43A>T r.(=) p.(=)
17 Parent #2 ./. g.29588678G>C - NF1_000116 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4515-51G>C, NM_001042492.2:c.4578-51G>C r.(=) p.(=)
17 Parent #2 ./. g.29588823C>T - NF1_000067 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4609C>T, NM_001042492.2:c.4672C>T r.(?) p.(His1537Tyr), p.(His1558Tyr)
17 Parent #2 ./. g.29588826T>C - NF1_000068 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4612T>C, NM_001042492.2:c.4675T>C r.(?) p.(Trp1538Arg), p.(Trp1559Arg)
17 Parent #2 ./. g.29588851C>A - NF1_000069 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4637C>A, NM_001042492.2:c.4700C>A r.(?) p.(Ser1546*), p.(Ser1567*)
17 Parent #2 ./. g.41276039G>T - BRCA1_000140 rs80356839 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.75C>A, NM_007297.3:c.-13C>A, NM_007298.3:c.75C>A, NM_007299.3:c.75C>A, NM_007300.3:c.75C>A r.(=) p.(=)
17 Parent #2 ./. g.41276155A>G - BRCA1_000067 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.-19-23T>C, NM_007297.3:c.-106-23T>C, NM_007298.3:c.-42T>C, NM_007299.3:c.-19-23T>C, NM_007300.3:c.-19-23T>C r.(=) p.(=)
17 Parent #2 ./. g.41276159A>C - BRCA1_000068 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.-19-27T>G, NM_007297.3:c.-106-27T>G, NM_007298.3:c.-46T>G, NM_007299.3:c.-19-27T>G, NM_007300.3:c.-19-27T>G r.(=) p.(=)
17 Parent #2 ./. g.66526601C>T - PRKAR1A_000010 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*11C>T, NM_001276290.1:c.973+459C>T, NM_002734.4:c.*11C>T, NM_212471.2:c.*11C>T, NM_212472.2:c.*11C>T r.(=) p.(=)
17 Parent #2 ./. g.66526604T>G - PRKAR1A_000011 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*14T>G, NM_001276290.1:c.973+462T>G, NM_002734.4:c.*14T>G, NM_212471.2:c.*14T>G, NM_212472.2:c.*14T>G r.(=) p.(=)
22 Parent #2 ./. g.29083909T>C - CHEK2_000010 rs17886242 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1737A>G, NM_001257387.1:c.945A>G, NM_007194.3:c.1608A>G, NM_145862.2:c.1521A>G r.(=) p.(=)
22 Parent #2 ./. g.29091142C>T - CHEK2_000016 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
22 Parent #2 ./. g.29091238T>A - CHEK2_000001 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1389-8A>T, NM_001257387.1:c.597-8A>T, NM_007194.3:c.1260-8A>T, NM_145862.2:c.1173-8A>T r.(=) p.(=)
Legend