Individual #00021179

Reference -
Gender F
Geographic origin Evrytania
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     
0000013450 47y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000262 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     
2 Parent #2 ?/? g.47606896del - EPCAM_000007 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.658-12del r.(=) p.(=)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067101del - MLH1_000027 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-27del, NM_001167617.1:c.745-33_745-27del, NM_001167618.1:c.316-33_316-27del, NM_001167619.1:c.316-33_316-27del, NM_001258271.1:c.1039-33_1039-27del, NM_001258273.1:c.316-33_316-27del, NM_001258274.1:c.316-33_316-27del r.(=) p.(=)
8 Parent #2 ?/? g.30977951T>A - WRN_000046 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2630+11T>A r.(=) p.(=)
9 Parent #2 ?/? g.35074515G>C - FANCG_000010 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1637-24C>G r.(=) p.(=)
15 Parent #2 -/- g.89850836T>C - FANCI_000003 rs185599057 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3592-8T>C, NM_018193.2:c.3412-8T>C r.(=) p.(=)
16 Parent #2 ?/? g.89825157G>A - FANCA_000014 rs55756185 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2853-44C>T r.(=) p.(=)
22 Parent #2 ?/? g.24145459T>G - SMARCB1_000006 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-23T>G, NM_003073.3:c.501-23T>G r.(=) p.(=)
Legend