Individual #00021764

Reference -
Gender F
Geographic origin Athens
Geographic origin Andros
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     
0000014027 82y - - III Endometrioid - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002040 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ./. g.58468487T>C - FANCL_000009 rs41281511 - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.-39A>G, NM_018062.3:c.-39A>G r.(=) p.(=)
7 Parent #2 ./. g.116380062A>G - MET_000020 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1451A>G, NM_001127500.1:c.1451A>G r.(?) p.(His484Arg)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
10 Parent #2 ./. g.72360130G>A - PRF1_000004 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.529C>T, NM_005041.4:c.529C>T r.(?) p.(Arg177Cys)
13 Parent #2 ./. g.32912008G>A - BRCA2_000024 rs1799952 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
13 Parent #2 ./. g.48916860C>G - RB1_000088 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+10C>G r.(=) p.(=)
14 Parent #2 ./. g.45605405G>C - FANCM_000034 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.171G>C r.(?) p.(Leu57Phe)
15 Parent #2 ./. g.78908076C>A - chr15_000016 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.2120559G>A - TSC2_000013 rs45517203 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1819G>A, NM_001077183.1:c.1819G>A, NM_001114382.1:c.1819G>A r.(?) p.(Ala607Thr)
16 Parent #2 ./. g.23637756G>C - PALB2_000004 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
17 Parent #2 ./. g.7577091G>A - TP53_000001 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.847C>T, NM_001126112.2:c.847C>T, NM_001126113.2:c.847C>T, NM_001126114.2:c.847C>T, NM_001126115.1:c.451C>T, NM_001126116.1:c.451C>T, NM_001126117.1:c.451C>T, NM_001126118.1:c.730C>T, NM_001276695.1:c.730C>T, NM_001276696.1:c.730C>T, NM_001276697.1:c.370C>T, NM_001276698.1:c.370C>T, NM_001276699.1:c.370C>T, NM_001276760.1:c.730C>T, NM_001276761.1:c.730C>T r.(?) p.(Arg283Cys), p.(Arg151Cys), p.(Arg124Cys), p.(Arg244Cys)
19 Parent #2 ./. g.45856486C>G - ERCC2_000113 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1758+14G>C r.(=) p.(=)
Legend