Individual #00021427

Reference -
Gender F
Geographic origin Lesbos
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     
0000013940 69y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001144 DNA SEQ-NG-I 1 - 26 Despoina Kalfakakou



Variants

26 entries on 1 page. Showing entries 1 - 26.
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.29450572G>C - ALK_000057 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2816-34C>G r.(=) p.(=)
2 Parent #2 ./. g.29473924T>C - ALK_000071 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+47A>G r.(=) p.(=)
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.61066661G>A - chr2_000007 rs6720506 - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.96920780G>C - TMEM127_000008 - - - - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.245-45C>G, NM_017849.3:c.245-45C>G r.(=) p.(=)
3 Parent #2 ./. g.14200206G>A - XPC_000026 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1066C>T, NM_004628.4:c.1177C>T r.(?) p.(Arg356Trp), p.(Arg393Trp)
3 Parent #2 ./. g.37067099_37067100insTATAT - MLH1_000082 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-29_1039-28insTATAT, NM_001167617.1:c.745-29_745-28insTATAT, NM_001167618.1:c.316-29_316-28insTATAT, NM_001167619.1:c.316-29_316-28insTATAT, NM_001258271.1:c.1039-29_1039-28insTATAT, NM_001258273.1:c.316-29_316-28insTATAT, NM_001258274.1:c.316-29_316-28insTATAT r.(=) p.(=)
7 Parent #2 ./. g.116403252A>T - MET_000047 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2513A>T, NM_001127500.1:c.2567A>T r.(?) p.(Asn838Ile), p.(Asn856Ile)
8 Parent #2 ./. g.145737877C>T - RECQL4_000136 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2954G>A - p.?
9 Parent #2 ./. g.35074213C>A - FANCG_000022 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1761G>T r.(?) p.(Trp587Cys)
9 Parent #2 ./. g.35074241G>T - FANCG_000009 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1761-28C>A r.(=) p.(=)
9 Parent #2 ./. g.135777958C>T - TSC1_000002 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
10 Parent #2 ./. g.80841170G>A - chr10_000031 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
14 Parent #2 ./. g.45606290C>T - FANCM_000011 rs77374493 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
14 Parent #2 ./. g.45654531C>T - FANCM_000008 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4627C>T r.(?) p.(Leu1543Phe)
16 Parent #2 ./. g.2115656C>T - TSC2_000201 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1716+20C>T, NM_001077183.1:c.1716+20C>T, NM_001114382.1:c.1716+20C>T r.(=) p.(=)
16 Parent #2 ./. g.2122392del - TSC2_000019 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 ./. g.3632298T>G - SLX4_000099 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.*45A>C r.(=) p.(=)
16 Parent #2 ./. g.3640715G>A - SLX4_000018 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 ./. g.3645724C>T - SLX4_000019 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 ./. g.3646275C>T - SLX4_000001 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 ./. g.3646323G>A - SLX4_000002 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
17 Parent #2 ./. g.7574013G>A - TP53_000013 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.1014C>T, NM_001126112.2:c.1014C>T, NM_001126113.2:c.*33C>T, NM_001126114.2:c.*121C>T, NM_001126115.1:c.618C>T, NM_001126116.1:c.*121C>T, NM_001126117.1:c.*33C>T, NM_001126118.1:c.897C>T, NM_001276695.1:c.*33C>T, NM_001276696.1:c.*121C>T, NM_001276697.1:c.537C>T, NM_001276698.1:c.*121C>T, NM_001276699.1:c.*33C>T, NM_001276760.1:c.897C>T, NM_001276761.1:c.897C>T r.(=) p.(=)
17 Parent #2 ./. g.41199745A>T - BRCA1_000077 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5407-25T>A, NM_007297.3:c.5266-25T>A, NM_007298.3:c.2095-25T>A, NM_007299.3:c.2021-25T>A, NM_007300.3:c.5470-25T>A r.(=) p.(=)
22 Parent #2 ./. g.24175804C>T - SMARCB1_000014 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1005C>T, NM_003073.3:c.1032C>T r.(=) p.(=)
Legend