Individual #00021546

Reference -
Gender F
Geographic origin Corfu
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     

OvCa FH     

Subtype     

Owner     
0000013231 30y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001720 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     
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
4 Parent #2 -/- g.55604597T>A - KIT_000013 rs72549296 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
5 Parent #2 ./. g.1342751A>C - chr5_000006 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -/- g.176638235T>C - NSD1_000004 rs145987330 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2835T>C, NM_172349.2:c.2028T>C r.(=) p.(=)
7 Parent #2 ./. g.50470652T>C - chr7_000012 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -?/-? g.98240474G>T - PTCH1_000098 rs186008764 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1216-6C>A, NM_001083602.1:c.1018-6C>A, NM_001083603.1:c.1213-6C>A, NM_001083604.1:c.763-6C>A, NM_001083605.1:c.763-6C>A, NM_001083606.1:c.763-6C>A, NM_001083607.1:c.763-6C>A r.(=) p.(=)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
11 Parent #2 -?/-? g.44254000C>T - EXT2_000017 rs138495222 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1859C>T, NM_001178083.1:c.1790C>T, NM_207122.1:c.1760C>T r.(?) p.(Thr620Met), p.(Thr597Met), p.(Thr587Met)
11 Parent #2 -?/-? g.67258278C>T - AIP_000004 rs139407567 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
16 Parent #2 ?/? g.2129231C>T - TSC2_000157 rs45487103 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3131+34C>T, NM_001077183.1:c.2999+34C>T, NM_001114382.1:c.3131+34C>T r.(=) p.(=)
16 Parent #2 -?/-? g.3639782G>A - SLX4_000074 rs149011965 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3857C>T r.(?) p.(Ala1286Val)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
19 Parent #2 ./. g.33532309G>A - chr19_000007 rs76583569 - - - - - - Despoina Kalfakakou - - - -
Legend