Individual #00021315

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     
0000014036 50y - - N/A - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006922 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.241667584T>C - FH_000009 rs200809528 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.905-39A>G r.(=) p.(=)
2 Parent #2 ?/? g.58388802_58388805del - FANCL_000043 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.919-32_919-29del, NM_018062.3:c.904-32_904-29del r.(=) p.(=)
7 Parent #2 ?/? g.116340270G>A - MET_000045 rs749738523 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1132G>A, NM_001127500.1:c.1132G>A r.(?) p.(Val378Ile)
7 Parent #2 -?/-? g.148513823G>A - EZH2_000042 rs376661392 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1443C>T, NM_001203248.1:c.1416C>T, NM_001203249.1:c.1416C>T, NM_004456.4:c.1458C>T, NM_152998.2:c.1326C>T r.(=) p.(=)
10 Parent #2 -?/-? g.72360140C>T - PRF1_000005 rs112883709 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 -?/-? g.72360291C>T - PRF1_000006 rs139336186 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
11 Parent #2 -?/-? g.108181058A>G - ATM_000183 rs3092911 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5918+16A>G r.(=) p.(=)
13 Parent #2 +/+ g.32907428dup - BRCA2_000274 rs80359306 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1813dup r.(?) p.(Ile605Asnfs*11)
13 Parent #2 -/- g.32930663C>T - BRCA2_000284 rs80358980 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7534C>T r.(?) p.(Leu2512Phe)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 ?/? g.29587367A>G - NF1_000033 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4368-20A>G, NM_001042492.2:c.4431-20A>G r.(=) p.(=)
17 Parent #2 ?/? g.66526629T>G - PRKAR1A_000006 rs768256259 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*39T>G, NM_001276290.1:c.973+487T>G, NM_002734.4:c.*39T>G, NM_212471.2:c.*39T>G, NM_212472.2:c.*39T>G r.(=) p.(=)
Legend