Individual #00021659

Reference -
Gender F
Geographic origin Heraklion
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     
0000013778 60y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001297 DNA SEQ-NG-I 1 - 49 Despoina Kalfakakou



Variants

49 entries on 1 page. Showing entries 1 - 49.
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     
2 Parent #2 ./. g.47702458T>G - MSH2_000039 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+49T>G, NM_001258281.1:c.1807+49T>G r.(=) p.(=)
2 Parent #2 ./. g.232894644T>C - DIS3L2_000062 rs77132797 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.265-45T>C, NM_001257282.1:c.265-45T>C, NM_152383.4:c.265-45T>C r.(=) p.(=)
3 Parent #2 ./. g.10107084G>A - FANCD2_000105 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2175G>A, NM_033084.3:c.2175G>A r.(=) p.(=)
3 Parent #2 ./. g.10107090G>A - FANCD2_000106 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2181G>A, NM_033084.3:c.2181G>A r.(=) p.(=)
4 Parent #2 ./. g.100239360C>A - chr4_000007 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112103124A>C - APC_000087 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.422+37A>C, NM_001127510.2:c.422+37A>C, NM_001127511.2:c.452+37A>C r.(=) p.(=)
7 Parent #2 ./. g.6042126T>C - PMS2_000049 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.495A>G r.(=) p.(=)
7 Parent #2 ./. g.6042129G>A - PMS2_000033 rs35311046 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
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.6043552G>A - PMS2_000037 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.250+51C>T r.(=) p.(=)
7 Parent #2 ./. g.6043711C>T - PMS2_000075 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.164-22G>A r.(=) p.(=)
7 Parent #2 ./. g.66453348T>C - SBDS_000005 rs11557421 - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
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.(=)
13 Parent #2 ./. g.49033831G>T - RB1_000056 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1968G>T r.(=) p.(=)
16 Parent #2 ./. g.14026008T>C - ERCC4_000003 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
16 Parent #2 ./. g.89845197G>A - FANCA_000005 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 ./. g.29527445A>G - NF1_000240 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.894A>G, NM_001042492.2:c.894A>G, NM_001128147.2:c.894A>G r.(=) 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.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.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.29562637A>G - NF1_000060 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3717A>G, NM_001042492.2:c.3717A>G 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.29562932G>A - NF1_000139 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-4G>A, NM_001042492.2:c.3871-4G>A r.spl? p.?
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.29587347A>C - NF1_000076 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4368-40A>C, NM_001042492.2:c.4431-40A>C r.(=) p.(=)
17 Parent #2 ./. g.29587553G>A - NF1_000079 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4514+20G>A, NM_001042492.2:c.4577+20G>A 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.29588789G>C - NF1_000065 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4575G>C, NM_001042492.2:c.4638G>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.41226488C>A - BRCA1_000009 rs1800744 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4535G>T, NM_007297.3:c.4394G>T, NM_007298.3:c.1223G>T, NM_007299.3:c.1223G>T, NM_007300.3:c.4598G>T r.(?) p.(Ser1512Ile), p.(Ser1465Ile), p.(Ser408Ile), p.(Ser1533Ile)
17 Parent #2 ./. g.59937223G>C - BRIP1_000001 rs28903098 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.139C>G r.(?) p.(Pro47Ala)
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
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.29091200A>G - CHEK2_000054 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1419T>C, NM_001257387.1:c.627T>C, NM_007194.3:c.1290T>C, NM_145862.2:c.1203T>C r.(=) p.(=)
22 Parent #2 ./. g.30069392G>A - NF2_000018 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1257G>A, NM_016418.5:c.1257G>A, NM_181825.2:c.1257G>A, NM_181828.2:c.1131G>A, NM_181829.2:c.1134G>A, NM_181830.2:c.1008G>A, NM_181831.2:c.1008G>A, NM_181832.2:c.1257G>A, NM_181833.2:c.448-21349G>A r.(=) p.(=)
22 Parent #2 ./. g.30070950G>C - NF2_000017 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1446+20G>C, NM_016418.5:c.1446+20G>C, NM_181825.2:c.1446+20G>C, NM_181828.2:c.1320+20G>C, NM_181829.2:c.1323+20G>C, NM_181830.2:c.1197+20G>C, NM_181831.2:c.1197+20G>C, NM_181832.2:c.1446+20G>C, NM_181833.2:c.448-19791G>C r.(=) p.(=)
Legend