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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013954 70y - - III Serous - 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 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
3 Parent #2 ./. g.14193816_14193817insC - XPC_000022 - - - - - - - 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 rs3731112 - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3114G>A - p.?
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1499G>A r.(?) p.(Arg500Gln)
16 Parent #2 ./. g.2121637C>T - TSC2_000051 - - - - - - - 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 - - - -
Legend