Individual #00021573

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     
0000013922 68y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001756 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.29543771C>T - ALK_000095 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1415-23G>A r.(=) p.(=)
2 Parent #2 ?/? g.47606896del - EPCAM_000007 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.658-12del r.(=) p.(=)
2 Parent #2 ./. g.217905843C>T - chr2_000006 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.176683930T>G - NSD1_000086 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4766-22T>G, NM_172349.2:c.3959-22T>G r.(=) p.(=)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
13 Parent #2 -/- g.32937488G>T - BRCA2_000063 rs28897747 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8149G>T r.(?) p.(Ala2717Ser)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.504-49T>C, NM_018193.2:c.504-49T>C r.(=) p.(=)
16 Parent #2 -?/-? g.2108881C>T - TSC2_000275 rs372463702 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.975+7C>T, NM_001077183.1:c.975+7C>T, NM_001114382.1:c.975+7C>T r.(=) p.(=)
17 Parent #2 ./. g.36101206T>C - chr17_000006 - - - - - - - Despoina Kalfakakou - - - -
Legend