Individual #00021425

Reference -
Gender F
Geographic origin Gorgomylos, Preveza,
Geographic origin Ammopotamos, Arta
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013594 53y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013593 53y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001136 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
8 Parent #2 ?/? g.31004843C>T - WRN_000014 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-37C>T r.(=) p.(=)
11 Parent #2 ?/? g.44129546G>A - EXT2_000036 rs143703574 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.383G>A, NM_001178083.1:c.284G>A, NM_207122.1:c.284G>A r.(?) p.(Arg128His), p.(Arg95His)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
15 Parent #2 ./. g.78908082del - chr15_000013 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908082dup - chr15_000012 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.89791001C>T - FANCI_000056 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.84+39C>T, NM_018193.2:c.84+39C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2124203C>T - TSC2_000197 rs372834284 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2358C>T, NM_001077183.1:c.2358C>T, NM_001114382.1:c.2358C>T r.(=) p.(=)
16 Parent #2 -/- g.2134982_2134984del - TSC2_000085 rs137854239 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
19 Parent #2 ?/? g.45873359G>A - ERCC2_000069 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.105+32C>T, NM_001130867.1:c.33+32C>T r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend