Individual #00021547

Reference -
Gender F
Geographic origin -
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     
0000013210 26y - - II Mixed - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001724 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.47702457_47702458insG - MSH2_000019 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+48_2005+49insG, NM_001258281.1:c.1807+48_1807+49insG 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.148516815T>C - EZH2_000055 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.893-36A>G, NM_001203248.1:c.866-36A>G, NM_001203249.1:c.866-36A>G, NM_004456.4:c.908-36A>G, NM_152998.2:c.776-36A>G r.(=) p.(=)
9 Parent #2 ./. g.135785949_135785950insGAT - TSC1_000020 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1263+8_1263+9insATC, NM_001162426.1:c.1260+8_1260+9insATC, NM_001162427.1:c.1110+8_1110+9insATC r.(=) p.(=)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.95532375A>G - CEP57_000005 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
14 Parent #2 ./. g.95598970A>G - DICER1_000068 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.189T>C, NM_001271282.1:c.189T>C, NM_030621.3:c.189T>C, NM_177438.2:c.189T>C r.(=) p.(=)
16 Parent #2 ./. g.2138433G>A - TSC2_000272 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-14G>A, NM_001077183.1:c.5059-14G>A, NM_001114382.1:c.5191-14G>A 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.(=)
16 Parent #2 ./. g.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.74477433G>T - RHBDF2_000053 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.150+24C>A, NM_024599.5:c.150+24C>A r.(=) p.(=)
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