Individual #00021728

Reference -
Gender F
Geographic origin Thrace
Geographic origin Halkidiki
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     
0000013408 45y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001950 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.47702251C>G - MSH2_000011 rs587779965 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1847C>G, NM_001258281.1:c.1649C>G r.(?) p.(Pro616Arg), p.(Pro550Arg)
3 Parent #2 ./. g.41925395C>T - chr3_000013 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 -?/-? g.55561810C>G - KIT_000019 rs144933028 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.200C>G, NM_001093772.1:c.200C>G r.(?) p.(Thr67Ser)
8 Parent #2 -?/-? g.30999079A>T - WRN_000051 rs200370409 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3101A>T r.(?) p.(Tyr1034Phe)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 ?/? g.89874818C>A - FANCA_000203 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.523-43G>T, NM_001018112.1:c.523-43G>T r.(=) p.(=)
17 Parent #2 -/- g.74469185C>T - RHBDF2_000007 rs138683747 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
Legend