Individual #00021195

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     

OvCa FH     

Subtype     

Owner     
0000013954 70y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000297 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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
3 Parent #2 ?/? g.14193816_14193817insC - XPC_000022 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+18_2004+19insG, NM_004628.4:c.2115+18_2115+19insG r.(=) p.(=)
3 Parent #2 ?/? g.14206880C>T - XPC_000015 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.668+48G>A, NM_004628.4:c.779+48G>A r.(=) p.(=)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
4 Parent #2 -/- g.55561733A>T - KIT_000025 rs72549300 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.123A>T, NM_001093772.1:c.123A>T 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.(=)
8 Parent #2 ?/? g.145737650C>T - RECQL4_000055 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3114G>A - p.?
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 ./. g.73908871A>G - chr13_000004 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.103514998G>A - ERCC5_000025 rs142081128 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1499G>A r.(?) p.(Arg500Gln)
16 Parent #2 -?/-? g.2121637C>T - TSC2_000051 rs372149311 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1946+20C>T, NM_001077183.1:c.1946+20C>T, NM_001114382.1:c.1946+20C>T r.(=) p.(=)
17 Parent #2 ./. g.58740362G>T - chr17_000003 - - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1267G>T r.(?) p.(Glu423*)
Legend