Individual #00021721

Reference -
Gender F
Geographic origin Heraklion
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     
0000013813 56y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001940 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.47606922C>A - EPCAM_000044 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.672C>A r.(=) p.(=)
2 Parent #2 ./. g.128050332G>A - ERCC3_000007 rs34295337 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.325C>T r.(?) p.(Arg109*)
3 Parent #2 ./. g.14212047G>A - XPC_000008 rs41545713 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 ./. g.37092176C>T - MLH1_000016 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.*32C>T, NM_001167617.1:c.*32C>T, NM_001167618.1:c.*32C>T, NM_001167619.1:c.*32C>T, NM_001258271.1:c.*32C>T, NM_001258273.1:c.*32C>T, NM_001258274.1:c.*32C>T r.(=) p.(=)
9 Parent #2 ./. g.97897616C>T - FANCC_000019 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.843+12G>A, NM_001243743.1:c.843+12G>A, NM_001243744.1:c.843+12G>A r.(=) p.(=)
9 Parent #2 ./. g.135782074G>A - TSC1_000074 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1438+44C>T, NM_001162426.1:c.1435+44C>T, NM_001162427.1:c.1285+44C>T r.(=) p.(=)
11 Parent #2 ./. g.95552024_95552026del - CEP57_000038 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.628_630del, NM_001243777.1:c.655_657del, NM_014679.4:c.655_657del r.(?) p.(Glu212del), p.(Glu221del)
15 Parent #2 ./. g.40498701T>C - BUB1B_000062 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2009+42T>C r.(=) p.(=)
16 Parent #2 ./. g.23646141_23646142insTCA - PALB2_000005 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
Legend