Individual #00021253

Reference -
Gender F
Geographic origin Messenia
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     
0000013898 67y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000514 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
8 Parent #2 -?/-? g.145739339G>A - RECQL4_000012 rs749542193 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2031C>T - p.?
10 Parent #2 -?/-? g.88649949C>T - BMPR1A_000015 rs150493865 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.198C>T r.(=) p.(=)
13 Parent #2 ?/? g.103498672C>T - ERCC5_000012 rs34291397 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
16 Parent #2 ?/? g.2111846C>T - TSC2_000044 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1120-26C>T, NM_001077183.1:c.1120-26C>T, NM_001114382.1:c.1120-26C>T r.(=) p.(=)
Legend