Individual #00021539

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BladCa, 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     
0000014012 78y - - II Serous - Yes - - Despoina Kalfakakou

Bladder Cancer (BladCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000014011 78y - - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001710 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
7 Parent #2 ./. g.116380867T>A - MET_000002 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ./. g.116380868A>T - MET_000003 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
8 Parent #2 ./. g.145737373C>T - RECQL4_000021 rs36078464 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
9 Parent #2 ./. g.22033388T>C - chr9_000005 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.35074257G>A - FANCG_000034 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1761-44C>T r.(=) p.(=)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.32456532G>A - WT1_000004 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.360C>T, NM_001198551.1:c.-4447C>T, NM_001198552.1:c.-4447C>T, NM_024424.3:c.360C>T, NM_024426.4:c.360C>T r.(=) p.(=)
17 Parent #2 ./. g.56787304G>A - RAD51C_000009 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.790G>A r.(?) p.(Gly264Ser)
Legend