Individual #00021665

Reference -
Gender F
Geographic origin Ioannina
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     
0000013600 53y - - I Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001868 DNA SEQ-NG-I 1 - 20 Despoina Kalfakakou



Variants

20 entries on 1 page. Showing entries 1 - 20.
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.45797255G>A - MUTYH_000008 rs3219490 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ./. g.128015140G>A - ERCC3_000034 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.*32C>T r.(=) p.(=)
2 Parent #2 ./. g.213296864G>A - chr2_000016 - - - - - - - Despoina Kalfakakou - - - -
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.52442016G>A - BAP1_000065 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.333C>T r.(=) p.(=)
4 Parent #2 ./. g.55573427C>T - KIT_000063 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1089C>T, NM_001093772.1:c.1089C>T r.(=) p.(=)
7 Parent #2 ./. g.6026959G>C - PMS2_000006 rs63750685 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
8 Parent #2 ./. g.31004638G>A - WRN_000036 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
8 Parent #2 ./. g.145739339G>A - RECQL4_000012 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2031C>T - p.?
8 Parent #2 ./. g.145739918G>A - RECQL4_000195 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-9C>T - p.?
9 Parent #2 ./. g.35076690C>T - FANCG_000037 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.924+31G>A r.(=) p.(=)
11 Parent #2 ./. g.47236819T>G - DDB2_000001 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.127+5T>G r.spl? p.?
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
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.41244952G>A - BRCA1_000058 rs41286300 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2596C>T, NM_007297.3:c.2455C>T, NM_007298.3:c.787+1809C>T, NM_007299.3:c.787+1809C>T, NM_007300.3:c.2596C>T r.(?), r.(=) p.(Arg866Cys), p.(Arg819Cys), p.(=)
17 Parent #2 ./. g.41256878C>T - BRCA1_000086 rs80358113 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.301+7G>A, NM_007297.3:c.160+7G>A, NM_007298.3:c.301+7G>A, NM_007299.3:c.301+7G>A, NM_007300.3:c.301+7G>A r.(=) p.(=)
17 Parent #2 ./. g.59821814T>C - BRIP1_000020 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2236A>G r.(?) p.(Ile746Val)
Legend