Individual #00021473

Reference -
Gender F
Geographic origin Kozani
Geographic origin Giannitsa
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     
0000013620 54y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001226 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     
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
11 Parent #2 ?/? g.2905208_2905209insG - CDKN1C_000012 - - Germline - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.*5+20_*5+21insC, NM_001122630.1:c.*5+20_*5+21insC, NM_001122631.1:c.*5+20_*5+21insC r.(=) p.(=)
13 Parent #2 +/+ g.32954271_32954272insG - BRCA2_000184 rs886038189 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9245_9246insG r.(?) p.(Lys3083Glufs*28)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
X Parent #2 -?/-? g.14861834T>C - FANCB_000022 rs780116069 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2435A>G, NM_152633.2:c.2435A>G r.(?) p.(Tyr812Cys)
Legend