Individual #00021707

Reference -
Gender F
Geographic origin Pontus
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     
0000014034 87y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001922 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.29445336C>T - ALK_000102 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3450+47G>A r.(=) p.(=)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
2 Parent #2 ?/? g.233198504T>C - DIS3L2_000008 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9551T>C, NM_152383.4:c.2011-46T>C r.(=) p.(=)
5 Parent #2 ?/? g.112176209C>T - APC_000038 rs373440614 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.4918C>T, NM_001127510.2:c.4918C>T, NM_001127511.2:c.4864C>T r.(?) p.(Arg1640Trp), p.(Arg1622Trp)
7 Parent #2 ?/? g.116409691del - MET_000012 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.2584-8del, NM_001127500.1:c.2638-8del r.(=) p.(=)
8 Parent #2 -?/-? g.145741230A>C - RECQL4_000197 rs1054027953 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1176T>G - p.?
9 Parent #2 ?/? g.98002890A>G - FANCC_000004 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.345+41T>C, NM_001243743.1:c.345+41T>C, NM_001243744.1:c.345+41T>C r.(=) p.(=)
12 Parent #2 ?/? g.121432195C>T - HNF1A_000048 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.942C>T r.(=) p.(=)
13 Parent #2 ?/? g.32893198T>C - BRCA2_000086 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-16T>C r.(=) p.(=)
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.14031676C>T - ERCC4_000055 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1865C>T r.(?) p.(Ala622Val)
16 Parent #2 -?/-? g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
17 Parent #2 -?/-? g.17119713G>C - FLCN_000041 rs372207262 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4980C>G, NM_144997.5:c.1281C>G r.(=) p.(=)
Legend