Individual #00021095

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     
0000013841 64y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000115 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     
1 Parent #2 +/+ g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
3 Parent #2 ?/? g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.123-48T>G r.(=) p.(=)
11 Parent #2 ?/? g.108181014A>G - ATM_000017 rs201963507 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5890A>G r.(?) p.(Lys1964Glu)
12 Parent #2 ?/? g.58144819C>T - CDK4_000001 rs150281463 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.409G>A r.(?) p.(Val137Ile)
16 Parent #2 ?/? g.14021900A>G - ERCC4_000002 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.600A>G r.(=) p.(=)
16 Parent #2 ?/? g.50784142_50784145del - CYLD_000005 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.504+29_504+32del, NM_001042412.1:c.504+29_504+32del, NM_015247.2:c.504+29_504+32del r.(=) p.(=)
Legend